{"id":"https://openalex.org/W60386799","doi":null,"title":"3p deletion syndrome.","display_name":"3p deletion syndrome.","publication_year":2013,"publication_date":"2013-08-01","ids":{"openalex":"https://openalex.org/W60386799","mag":"60386799","pmid":"https://pubmed.ncbi.nlm.nih.gov/24036645"},"language":"en","primary_location":{"id":"pmid:24036645","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/24036645","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":"Indian pediatrics","raw_type":"Case Reports"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["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/A5075923555","display_name":"Anupam Kaur","orcid":"https://orcid.org/0000-0002-2010-1234","observed_orcids":["https://orcid.org/0000-0002-2010-1234","https://orcid.org/0000-0003-3537-1736"]},"institutions":[{"id":"https://openalex.org/I165682329","display_name":"Guru Nanak Dev University","ror":"https://ror.org/05ghzpa93","country_code":"IN","type":"education","lineage":["https://openalex.org/I165682329"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Anupam Kaur","raw_affiliation_strings":["Department of Human Genetics, Guru Nanak Dev University; and , *39-C, Circular Road; Amritsar, Punjab, India. Correspondence to: Dr Anupam Kaur, Reader, Human Genetics, Guru Nanak Dev University Amritsar, Punjab 143 005, India. anupamkaur@yahoo.co.in"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, Guru Nanak Dev University; and , *39-C, Circular Road; Amritsar, Punjab, India. Correspondence to: Dr Anupam Kaur, Reader, Human Genetics, Guru Nanak Dev University Amritsar, Punjab 143 005, India. anupamkaur@yahoo.co.in","institution_ids":["https://openalex.org/I165682329"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5032415559","display_name":"Shailesh Khetarpal","orcid":"https://orcid.org/0000-0002-9283-6897","observed_orcids":["https://orcid.org/0000-0002-9283-6897"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"S Khetarpal","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.4935,"has_fulltext":false,"cited_by_count":7,"citation_normalized_percentile":{"value":0.61944263,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":96},"biblio":{"volume":"50","issue":"8","first_page":"795","last_page":"6"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9345999956130981,"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/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9345999956130981,"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/T13107","display_name":"Congenital limb and hand anomalies","score":0.061000000685453415,"subfield":{"id":"https://openalex.org/subfields/1309","display_name":"Developmental Biology"},"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":0.0006000000284984708,"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/congenital-malformations","display_name":"congenital malformations","score":0.9369999766349792},{"id":"https://openalex.org/keywords/flexion-contracture","display_name":"flexion contracture","score":0.8289999961853027},{"id":"https://openalex.org/keywords/karyotype","display_name":"karyotype","score":0.6570000052452087}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.9062587022781372},{"id":"https://openalex.org/C53226629","wikidata":"https://www.wikidata.org/wiki/Q189967","display_name":"Karyotype","level":4,"score":0.7922931909561157},{"id":"https://openalex.org/C2781184374","wikidata":"https://www.wikidata.org/wiki/Q42586","display_name":"Elbow","level":2,"score":0.6014636754989624},{"id":"https://openalex.org/C2779982284","wikidata":"https://www.wikidata.org/wiki/Q1182746","display_name":"Deformity","level":2,"score":0.5670651197433472},{"id":"https://openalex.org/C2778216619","wikidata":"https://www.wikidata.org/wiki/Q185706","display_name":"Wrist","level":2,"score":0.5161015391349792},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.480035662651062},{"id":"https://openalex.org/C105702510","wikidata":"https://www.wikidata.org/wiki/Q514","display_name":"Anatomy","level":1,"score":0.4021722078323364},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.35935866832733154},{"id":"https://openalex.org/C141071460","wikidata":"https://www.wikidata.org/wiki/Q40821","display_name":"Surgery","level":1,"score":0.3038861155509949},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.2868820130825043},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.0},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002872","descriptor_name":"Chromosome Deletion","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D002893","descriptor_name":"Chromosomes, Human, Pair 3","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":"D007223","descriptor_name":"Infant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"pmid:24036645","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/24036645","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":"Indian pediatrics","raw_type":"Case Reports"},{"id":"mag:60386799","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/24036645","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":null,"is_accepted":false,"is_published":false,"raw_source_name":"PubMed","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.8199999928474426}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2235076183","https://openalex.org/W2415176489","https://openalex.org/W2012636544","https://openalex.org/W2046245553","https://openalex.org/W2018923974","https://openalex.org/W2027964360","https://openalex.org/W2028754028","https://openalex.org/W3032076428","https://openalex.org/W2079696877","https://openalex.org/W1997975286"],"abstract_inverted_index":{"3p":[0,21],"deletion":[1,22],"is":[2],"a":[3,10],"rare":[4],"cytogenetic":[5],"finding.":[6],"Here":[7],"we":[8],"describe":[9],"3":[11],"months":[12],"old":[13],"male":[14],"with":[15],"congenital":[16],"malformations.":[17],"His":[18],"karyotype":[19],"revealed":[20],"46,XY,del(3)(p25-pter).":[23],"The":[24],"child":[25],"had":[26],"flexion":[27],"deformity":[28],"of":[29],"wrist":[30],"and":[31],"elbow":[32],"which":[33],"has":[34],"never":[35],"been":[36],"reported":[37],"before.":[38]},"counts_by_year":[{"year":2021,"cited_by_count":3},{"year":2020,"cited_by_count":1},{"year":2016,"cited_by_count":1},{"year":2014,"cited_by_count":2}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}