{"id":"https://openalex.org/W1996804729","doi":"https://doi.org/10.1002/ajmg.a.35620","title":"Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia","display_name":"Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia","publication_year":2012,"publication_date":"2012-09-17","ids":{"openalex":"https://openalex.org/W1996804729","doi":"https://doi.org/10.1002/ajmg.a.35620","mag":"1996804729","pmid":"https://pubmed.ncbi.nlm.nih.gov/22987568"},"language":"en","primary_location":{"id":"doi:10.1002/ajmg.a.35620","doi":"https://doi.org/10.1002/ajmg.a.35620","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ajmg.a.35620","pdf_url":null,"source":{"id":"https://openalex.org/S180901878","display_name":"American Journal of Medical Genetics Part A","issn_l":"1552-4825","issn":["1552-4825","1552-4833"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-3","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American Journal of Medical Genetics Part A","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5008773486","display_name":"Ashwin Bhikaji Dalal","orcid":"https://orcid.org/0000-0001-5929-745X","observed_orcids":["https://orcid.org/0000-0001-5929-745X"]},"institutions":[{"id":"https://openalex.org/I78270026","display_name":"Centre for DNA Fingerprinting and Diagnostics","ror":"https://ror.org/04psbxy09","country_code":"IN","type":"facility","lineage":["https://openalex.org/I2799351866","https://openalex.org/I4210134808","https://openalex.org/I78270026"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Ashwin Dalal","raw_affiliation_strings":["Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Andhra Pradesh, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Andhra Pradesh, India","institution_ids":["https://openalex.org/I78270026"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039572003","display_name":"Gandham SriLakshmi Bhavani","orcid":"https://orcid.org/0000-0001-5284-8909","observed_orcids":["https://orcid.org/0000-0001-5284-8909"]},"institutions":[{"id":"https://openalex.org/I78270026","display_name":"Centre for DNA Fingerprinting and Diagnostics","ror":"https://ror.org/04psbxy09","country_code":"IN","type":"facility","lineage":["https://openalex.org/I2799351866","https://openalex.org/I4210134808","https://openalex.org/I78270026"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Sri Lakshmi Bhavani G","raw_affiliation_strings":["Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Andhra Pradesh, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Andhra Pradesh, India","institution_ids":["https://openalex.org/I78270026"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5069446791","display_name":"Padma Priya Togarrati","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I78270026","display_name":"Centre for DNA Fingerprinting and Diagnostics","ror":"https://ror.org/04psbxy09","country_code":"IN","type":"facility","lineage":["https://openalex.org/I2799351866","https://openalex.org/I4210134808","https://openalex.org/I78270026"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Padma Priya Togarrati","raw_affiliation_strings":["Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Andhra Pradesh, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Andhra Pradesh, India","institution_ids":["https://openalex.org/I78270026"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013116560","display_name":"Tatjana Bierhals","orcid":"https://orcid.org/0000-0002-6103-105X","observed_orcids":["https://orcid.org/0000-0002-6103-105X"]},"institutions":[{"id":"https://openalex.org/I4210108711","display_name":"University Medical Center Hamburg-Eppendorf","ror":"https://ror.org/01zgy1s35","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I159176309","https://openalex.org/I4210108711"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Tatjana Bierhals","raw_affiliation_strings":["Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany","institution_ids":["https://openalex.org/I4210108711"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5087011536","display_name":"Madhusudan Reddy Nandineni","orcid":"https://orcid.org/0000-0002-8933-4503","observed_orcids":["https://orcid.org/0000-0002-8933-4503"]},"institutions":[{"id":"https://openalex.org/I78270026","display_name":"Centre for DNA Fingerprinting and Diagnostics","ror":"https://ror.org/04psbxy09","country_code":"IN","type":"facility","lineage":["https://openalex.org/I2799351866","https://openalex.org/I4210134808","https://openalex.org/I78270026"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Madhusudan R. Nandineni","raw_affiliation_strings":["Laboratory of Genomics and Profiling Applications, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Andhra Pradesh, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory of Genomics and Profiling Applications, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Andhra Pradesh, India","institution_ids":["https://openalex.org/I78270026"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5065456135","display_name":"Sumita Danda","orcid":"https://orcid.org/0000-0001-8973-370X","observed_orcids":["https://orcid.org/0000-0001-8973-370X"]},"institutions":[{"id":"https://openalex.org/I172917736","display_name":"Christian Medical College, Vellore","ror":"https://ror.org/00c7kvd80","country_code":"IN","type":"education","lineage":["https://openalex.org/I172917736"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Sumita Danda","raw_affiliation_strings":["Clinical Genetics Unit, Christian Medical College, Vellore, Tamil Nadu, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinical Genetics Unit, Christian Medical College, Vellore, Tamil Nadu, India","institution_ids":["https://openalex.org/I172917736"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5066425245","display_name":"Debashish Danda","orcid":"https://orcid.org/0000-0002-2121-0942","observed_orcids":["https://orcid.org/0000-0002-2121-0942"]},"institutions":[{"id":"https://openalex.org/I172917736","display_name":"Christian Medical College, Vellore","ror":"https://ror.org/00c7kvd80","country_code":"IN","type":"education","lineage":["https://openalex.org/I172917736"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Debashish Danda","raw_affiliation_strings":["Department of Clinical Immunology and Rheumatology, Christian Medical College, Vellore, Tamil Nadu, India","Department of Clinical Immunology & Rheumatology Christian Medical College Vellore Tamil Nadu India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Immunology and Rheumatology, Christian Medical College, Vellore, Tamil Nadu, India","institution_ids":["https://openalex.org/I172917736"]},{"raw_affiliation_string":"Department of Clinical Immunology & Rheumatology Christian Medical College Vellore Tamil Nadu India","institution_ids":["https://openalex.org/I172917736"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5079260471","display_name":"Hitesh Hasmukhlal Shah","orcid":"https://orcid.org/0000-0002-2940-3108","observed_orcids":["https://orcid.org/0000-0002-2940-3108"]},"institutions":[{"id":"https://openalex.org/I164861460","display_name":"Manipal Academy of Higher Education","ror":"https://ror.org/02xzytt36","country_code":"IN","type":"education","lineage":["https://openalex.org/I164861460"]},{"id":"https://openalex.org/I76414455","display_name":"Kasturba Medical College, Manipal","ror":"https://ror.org/05hg48t65","country_code":"IN","type":"education","lineage":["https://openalex.org/I164861460","https://openalex.org/I76414455"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Hitesh Shah","raw_affiliation_strings":["Pediatric Orthopedic Services, Department of Orthopedics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pediatric Orthopedic Services, Department of Orthopedics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India","institution_ids":["https://openalex.org/I164861460","https://openalex.org/I76414455"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027288876","display_name":"Sandeep Vijayan","orcid":"https://orcid.org/0000-0003-3842-4290","observed_orcids":["https://orcid.org/0000-0003-3842-4290"]},"institutions":[{"id":"https://openalex.org/I164861460","display_name":"Manipal Academy of Higher Education","ror":"https://ror.org/02xzytt36","country_code":"IN","type":"education","lineage":["https://openalex.org/I164861460"]},{"id":"https://openalex.org/I76414455","display_name":"Kasturba Medical College, Manipal","ror":"https://ror.org/05hg48t65","country_code":"IN","type":"education","lineage":["https://openalex.org/I164861460","https://openalex.org/I76414455"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Sandeep Vijayan","raw_affiliation_strings":["Pediatric Orthopedic Services, Department of Orthopedics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pediatric Orthopedic Services, Department of Orthopedics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India","institution_ids":["https://openalex.org/I164861460","https://openalex.org/I76414455"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5090985957","display_name":"Kalpana Gowrishankar","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210135524","display_name":"Kanchi Kamakoti CHILDS Trust Hospital","ror":"https://ror.org/04g3z9997","country_code":"IN","type":"healthcare","lineage":["https://openalex.org/I4210135524"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Kalpana Gowrishankar","raw_affiliation_strings":["Department of Medical Genetics, Kanchi Kamakoti Childs Trust Hospital, Chennai, Tamil Nadu, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, Kanchi Kamakoti Childs Trust Hospital, Chennai, Tamil Nadu, India","institution_ids":["https://openalex.org/I4210135524"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5015575038","display_name":"Shubha Rajendra Phadke","orcid":"https://orcid.org/0000-0002-6624-082X","observed_orcids":["https://orcid.org/0000-0002-6624-082X"]},"institutions":[{"id":"https://openalex.org/I161370692","display_name":"Sanjay Gandhi Post Graduate Institute of Medical Sciences","ror":"https://ror.org/01rsgrz10","country_code":"IN","type":"facility","lineage":["https://openalex.org/I161370692"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Shubha R Phadke","raw_affiliation_strings":["Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India","institution_ids":["https://openalex.org/I161370692"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5068419825","display_name":"Abdul Mueed Bidchol","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I164861460","display_name":"Manipal Academy of Higher Education","ror":"https://ror.org/02xzytt36","country_code":"IN","type":"education","lineage":["https://openalex.org/I164861460"]},{"id":"https://openalex.org/I76414455","display_name":"Kasturba Medical College, Manipal","ror":"https://ror.org/05hg48t65","country_code":"IN","type":"education","lineage":["https://openalex.org/I164861460","https://openalex.org/I76414455"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Abdul Mueed Bidchol","raw_affiliation_strings":["Genetics Clinic, Department of Pediatrics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genetics Clinic, Department of Pediatrics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India","institution_ids":["https://openalex.org/I164861460","https://openalex.org/I76414455"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101430377","display_name":"Anand Prahalad Rao","orcid":"https://orcid.org/0000-0002-9411-9146","observed_orcids":["https://orcid.org/0000-0002-9411-9146"]},"institutions":[{"id":"https://openalex.org/I4210165321","display_name":"Manipal Hospital","ror":"https://ror.org/05mryn396","country_code":"IN","type":"healthcare","lineage":["https://openalex.org/I4210165321"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Anand Prahalad Rao","raw_affiliation_strings":["Pediatric Rheumatology Clinic, Manipal Hospital, Bangalore, Karnataka, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pediatric Rheumatology Clinic, Manipal Hospital, Bangalore, Karnataka, India","institution_ids":["https://openalex.org/I4210165321"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5030777143","display_name":"Sheela Nampoothiri","orcid":"https://orcid.org/0000-0002-9575-0722","observed_orcids":["https://orcid.org/0000-0002-9575-0722"]},"institutions":[{"id":"https://openalex.org/I1282879092","display_name":"Amrita Institute of Medical Sciences and Research Centre","ror":"https://ror.org/05ahcwz21","country_code":"IN","type":"healthcare","lineage":["https://openalex.org/I1282879092"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Sheela Nampoothiri","raw_affiliation_strings":["Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Center, AIMS Poneakara, Cochin, Kerala, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Center, AIMS Poneakara, Cochin, Kerala, India","institution_ids":["https://openalex.org/I1282879092"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5075037256","display_name":"Kerstin Kutsche","orcid":"https://orcid.org/0000-0001-8494-8963","observed_orcids":["https://orcid.org/0000-0001-8494-8963"]},"institutions":[{"id":"https://openalex.org/I4210108711","display_name":"University Medical Center Hamburg-Eppendorf","ror":"https://ror.org/01zgy1s35","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I159176309","https://openalex.org/I4210108711"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Kerstin Kutsche","raw_affiliation_strings":["Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany","institution_ids":["https://openalex.org/I4210108711"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5022967635","display_name":"Katta M. Girisha","orcid":"https://orcid.org/0000-0002-0139-8239","observed_orcids":["https://orcid.org/0000-0002-0139-8239"]},"institutions":[{"id":"https://openalex.org/I164861460","display_name":"Manipal Academy of Higher Education","ror":"https://ror.org/02xzytt36","country_code":"IN","type":"education","lineage":["https://openalex.org/I164861460"]},{"id":"https://openalex.org/I76414455","display_name":"Kasturba Medical College, Manipal","ror":"https://ror.org/05hg48t65","country_code":"IN","type":"education","lineage":["https://openalex.org/I164861460","https://openalex.org/I76414455"]}],"countries":["IN"],"is_corresponding":true,"raw_author_name":"K.M. Girisha","raw_affiliation_strings":["Genetics Clinic, Department of Pediatrics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genetics Clinic, Department of Pediatrics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India","institution_ids":["https://openalex.org/I164861460","https://openalex.org/I76414455"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":9,"corresponding_author_ids":["https://openalex.org/A5022967635"],"corresponding_institution_ids":["https://openalex.org/I164861460","https://openalex.org/I76414455"],"apc_list":{"value":4710,"currency":"USD","value_usd":4710},"apc_paid":null,"fwci":2.7375,"has_fulltext":false,"cited_by_count":68,"citation_normalized_percentile":{"value":0.9091014,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":99},"biblio":{"volume":"158A","issue":"11","first_page":"2820","last_page":"2828"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11310","display_name":"Connective tissue disorders research","score":0.989300012588501,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11310","display_name":"Connective tissue disorders research","score":0.989300012588501,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.0019000000320374966,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T12924","display_name":"Dermatological and Skeletal Disorders","score":0.001500000013038516,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/progressive-pseudorheumatoid-dysplasia","display_name":"progressive pseudorheumatoid dysplasia","score":0.9990000128746033},{"id":"https://openalex.org/keywords/skeletal-dysplasia","display_name":"skeletal dysplasia","score":0.828000009059906},{"id":"https://openalex.org/keywords/mutation-spectrum","display_name":"mutation spectrum","score":0.6340000033378601},{"id":"https://openalex.org/keywords/novel-mutations","display_name":"novel mutations","score":0.925000011920929},{"id":"https://openalex.org/keywords/compound-heterozygosity","display_name":"compound heterozygosity","score":0.9570000171661377},{"id":"https://openalex.org/keywords/homozygous-mutation","display_name":"homozygous mutation","score":0.8980000019073486},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.6990000009536743},{"id":"https://openalex.org/keywords/indian-patients","display_name":"Indian patients","score":0.6899999976158142},{"id":"https://openalex.org/keywords/joint-stiffness","display_name":"joint stiffness","score":0.3580000102519989},{"id":"https://openalex.org/keywords/contractures","display_name":"contractures","score":0.6710000038146973},{"id":"https://openalex.org/keywords/osteoporosis","display_name":"osteoporosis","score":0.8100000023841858}],"concepts":[{"id":"https://openalex.org/C12125453","wikidata":"https://www.wikidata.org/wiki/Q5156837","display_name":"Compound heterozygosity","level":4,"score":0.8323149681091309},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.653382420539856},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.647300660610199},{"id":"https://openalex.org/C2775894508","wikidata":"https://www.wikidata.org/wiki/Q1128996","display_name":"Dysplasia","level":2,"score":0.5758642554283142},{"id":"https://openalex.org/C127607297","wikidata":"https://www.wikidata.org/wiki/Q11602751","display_name":"Muscle contracture","level":2,"score":0.46196597814559937},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.4172937572002411},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.41055965423583984},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.3966183066368103},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.38033318519592285},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.34481996297836304},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.2720215320587158},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.20394092798233032},{"id":"https://openalex.org/C141071460","wikidata":"https://www.wikidata.org/wiki/Q40821","display_name":"Surgery","level":1,"score":0.1540638506412506},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000595","descriptor_name":"Amino Acid Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001177","descriptor_name":"Arthropathy, Neurogenic","qualifier_ui":"Q000000981","qualifier_name":"diagnostic imaging","is_major_topic":false},{"descriptor_ui":"D001177","descriptor_name":"Arthropathy, Neurogenic","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003241","descriptor_name":"Consanguinity","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005190","descriptor_name":"Family","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007194","descriptor_name":"India","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007223","descriptor_name":"Infant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007592","descriptor_name":"Joint Diseases","qualifier_ui":"Q000151","qualifier_name":"congenital","is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008969","descriptor_name":"Molecular Sequence Data","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011859","descriptor_name":"Radiography","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016415","descriptor_name":"Sequence Alignment","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D023061","descriptor_name":"Gene Order","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D044465","descriptor_name":"White People","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D055511","descriptor_name":"CCN Intercellular Signaling Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D055511","descriptor_name":"CCN Intercellular Signaling Proteins","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D055815","descriptor_name":"Young Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1002/ajmg.a.35620","doi":"https://doi.org/10.1002/ajmg.a.35620","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ajmg.a.35620","pdf_url":null,"source":{"id":"https://openalex.org/S180901878","display_name":"American Journal of Medical Genetics Part A","issn_l":"1552-4825","issn":["1552-4825","1552-4833"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-3","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American Journal of Medical Genetics Part A","raw_type":"journal-article"},{"id":"pmid:22987568","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/22987568","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American journal of medical genetics. Part A","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9476000070571899,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":23,"referenced_works":["https://openalex.org/W1568655920","https://openalex.org/W1967712599","https://openalex.org/W1980740976","https://openalex.org/W1984841510","https://openalex.org/W1991873472","https://openalex.org/W2003946585","https://openalex.org/W2016499348","https://openalex.org/W2054759492","https://openalex.org/W2059145105","https://openalex.org/W2064469646","https://openalex.org/W2076357933","https://openalex.org/W2088985591","https://openalex.org/W2092319084","https://openalex.org/W2099589970","https://openalex.org/W2099942772","https://openalex.org/W2158545941","https://openalex.org/W2163500926","https://openalex.org/W2164411657","https://openalex.org/W2409358955","https://openalex.org/W2415264383","https://openalex.org/W2417695981","https://openalex.org/W2427948569","https://openalex.org/W2921055416"],"related_works":["https://openalex.org/W2427948569","https://openalex.org/W2097661174","https://openalex.org/W2502426167","https://openalex.org/W2774507956","https://openalex.org/W2560560810","https://openalex.org/W2083825980","https://openalex.org/W4319827504","https://openalex.org/W2086265614","https://openalex.org/W2056955880","https://openalex.org/W2766623165"],"abstract_inverted_index":{"Progressive":[0],"pseudorheumatoid":[1],"dysplasia":[2],"(PPD)":[3],"is":[4,211],"a":[5,29,48,71],"progressive":[6],"skeletal":[7,80],"syndrome":[8],"characterized":[9],"by":[10,133],"stiffness,":[11],"swelling":[12],"and":[13,67,90,102,120,154,161,175,180,184,222],"pain":[14],"in":[15,21,33,70,107,140,201,206,219,240],"multiple":[16],"joints":[17,117],"with":[18,77,83,152,217],"associated":[19],"osteoporosis":[20],"affected":[22],"patients.":[23,143],"Radiographically,":[24],"the":[25,34,56,98,123,137,146,198,212,220,223,237],"predominant":[26],"features":[27,66,92,148],"resemble":[28],"spondyloepiphyseal":[30],"dysplasia.":[31,81],"Mutations":[32],"WISP3":[35,68,138,241],"gene":[36,139],"are":[37,122,177],"known":[38],"to":[39,196],"cause":[40],"this":[41,78],"autosomal":[42],"recessive":[43],"condition.":[44],"To":[45],"date,":[46],"only":[47],"limited":[49],"number":[50],"of":[51,58,74,93,115,118,136,149,164,215,231],"studies":[52],"have":[53,186],"looked":[54],"into":[55],"spectrum":[57],"mutations":[59,69,160,179,238],"causing":[60],"PPD.":[61],"We":[62,144,233],"report":[63,155,225],"on":[64,156,228],"clinical":[65,89,147],"large":[72],"series":[73],"Indian":[75],"patients":[76,109,151,216],"rare":[79],"Families":[82],"at":[84],"least":[85],"one":[86,162],"member":[87],"showing":[88],"radiologic":[91],"PPD":[94,153,218],"were":[95,105],"recruited":[96],"for":[97],"study.":[99],"Symptoms,":[100],"signs":[101],"radiographic":[103],"findings":[104],"documented":[106],"35":[108,142,150],"from":[110,226],"25":[111],"unrelated":[112,208],"families.":[113,209],"Swelling":[114],"small":[116],"hands":[119],"contractures":[121],"most":[124,199],"common":[125,200],"presenting":[126],"features.":[127],"Mutation":[128],"analysis":[129,230],"was":[130],"carried":[131],"out":[132],"bidirectional":[134],"sequencing":[135],"all":[141,236],"summarize":[145],"11":[157],"different":[158],"homozygous":[159],"instance":[163],"compound":[165],"heterozygosity.":[166],"Eight":[167],"(c.233G>A,":[168],"c.340T>C,":[169],"c.348C>A,":[170],"c.433T>C,":[171],"c.682T>C,":[172],"c.802T>G,":[173],"c.947_951delAATTT,":[174],"c.1010G>A)":[176],"novel":[178],"three":[181],"(c.156C>A,":[182],"c.248G>A,":[183],"c.739_740delTG)":[185],"been":[187],"reported":[188,239],"previously.":[189],"One":[190],"missense":[191],"mutation":[192,229],"(c.1010G>A;":[193],"p.Cys337Tyr)":[194],"appears":[195],"be":[197],"our":[202],"population":[203],"being":[204],"seen":[205],"10":[207],"This":[210],"largest":[213],"cohort":[214],"literature":[221],"first":[224],"India":[227],"WISP3.":[232],"also":[234],"review":[235],"till":[242],"date.":[243]},"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":2},{"year":2023,"cited_by_count":4},{"year":2022,"cited_by_count":3},{"year":2021,"cited_by_count":7},{"year":2020,"cited_by_count":5},{"year":2019,"cited_by_count":2},{"year":2018,"cited_by_count":4},{"year":2017,"cited_by_count":5},{"year":2016,"cited_by_count":13},{"year":2015,"cited_by_count":10},{"year":2014,"cited_by_count":3},{"year":2013,"cited_by_count":5},{"year":2012,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}