{"id":"https://openalex.org/W2002339262","doi":"https://doi.org/10.1007/s00439-007-0390-7","title":"A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation","display_name":"A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation","publication_year":2007,"publication_date":"2007-06-14","ids":{"openalex":"https://openalex.org/W2002339262","doi":"https://doi.org/10.1007/s00439-007-0390-7","mag":"2002339262","pmid":"https://pubmed.ncbi.nlm.nih.gov/17569090"},"language":"en","primary_location":{"id":"doi:10.1007/s00439-007-0390-7","doi":"https://doi.org/10.1007/s00439-007-0390-7","is_oa":true,"landing_page_url":"https://doi.org/10.1007/s00439-007-0390-7","pdf_url":"https://link.springer.com/content/pdf/10.1007/s00439-007-0390-7.pdf","source":{"id":"https://openalex.org/S199832308","display_name":"Human Genetics","issn_l":"0018-7348","issn":["0018-7348","0340-6717","1432-1203"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Genetics","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://link.springer.com/content/pdf/10.1007/s00439-007-0390-7.pdf","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5077835589","display_name":"Christian Babbs","orcid":"https://orcid.org/0000-0002-1898-5878","observed_orcids":["https://orcid.org/0000-0002-1898-5878"]},"institutions":[{"id":"https://openalex.org/I2802742124","display_name":"John Radcliffe Hospital","ror":"https://ror.org/0080acb59","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2802742124","https://openalex.org/I4210127145","https://openalex.org/I4210147381"]},{"id":"https://openalex.org/I40120149","display_name":"University of Oxford","ror":"https://ror.org/052gg0110","country_code":"GB","type":"education","lineage":["https://openalex.org/I40120149"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Christian Babbs","raw_affiliation_strings":["Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK","institution_ids":["https://openalex.org/I2802742124","https://openalex.org/I40120149"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108227043","display_name":"Raoul Heller","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2802742124","display_name":"John Radcliffe Hospital","ror":"https://ror.org/0080acb59","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2802742124","https://openalex.org/I4210127145","https://openalex.org/I4210147381"]},{"id":"https://openalex.org/I40120149","display_name":"University of Oxford","ror":"https://ror.org/052gg0110","country_code":"GB","type":"education","lineage":["https://openalex.org/I40120149"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Raoul Heller","raw_affiliation_strings":["Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK","John Radcliffe Hospital"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK","institution_ids":["https://openalex.org/I2802742124","https://openalex.org/I40120149"]},{"raw_affiliation_string":"John Radcliffe Hospital","institution_ids":["https://openalex.org/I2802742124"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5016443533","display_name":"David B. Everman","orcid":"https://orcid.org/0000-0001-8331-992X","observed_orcids":["https://orcid.org/0000-0001-8331-992X"]},"institutions":[{"id":"https://openalex.org/I4210149064","display_name":"Greenwood Genetic Center","ror":"https://ror.org/03p64mj41","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210149064"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"David B. Everman","raw_affiliation_strings":["Center for Molecular Studies, JC Self Research Institute for Human Genetics, Greenwood, SC, USA","JC Self Research Institute for Human Genetics"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Molecular Studies, JC Self Research Institute for Human Genetics, Greenwood, SC, USA","institution_ids":["https://openalex.org/I4210149064"]},{"raw_affiliation_string":"JC Self Research Institute for Human Genetics","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110237564","display_name":"M. Crocker","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2801179840","display_name":"Churchill Hospital","ror":"https://ror.org/009vheq40","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2801179840","https://openalex.org/I4210147381"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Mark Crocker","raw_affiliation_strings":["Medical Genetics Laboratories, Churchill Hospital, Oxford, UK","Churchill Hospital"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Medical Genetics Laboratories, Churchill Hospital, Oxford, UK","institution_ids":["https://openalex.org/I2801179840"]},{"raw_affiliation_string":"Churchill Hospital","institution_ids":["https://openalex.org/I2801179840"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5046952822","display_name":"Stephen R.F. Twigg","orcid":"https://orcid.org/0000-0001-5024-049X","observed_orcids":["https://orcid.org/0000-0001-5024-049X"]},"institutions":[{"id":"https://openalex.org/I2802742124","display_name":"John Radcliffe Hospital","ror":"https://ror.org/0080acb59","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2802742124","https://openalex.org/I4210127145","https://openalex.org/I4210147381"]},{"id":"https://openalex.org/I40120149","display_name":"University of Oxford","ror":"https://ror.org/052gg0110","country_code":"GB","type":"education","lineage":["https://openalex.org/I40120149"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Stephen R. F. Twigg","raw_affiliation_strings":["Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK","John Radcliffe Hospital"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK","institution_ids":["https://openalex.org/I2802742124","https://openalex.org/I40120149"]},{"raw_affiliation_string":"John Radcliffe Hospital","institution_ids":["https://openalex.org/I2802742124"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072815495","display_name":"Charles E. Schwartz","orcid":"https://orcid.org/0000-0002-7770-1943","observed_orcids":["https://orcid.org/0000-0002-7770-1943"]},"institutions":[{"id":"https://openalex.org/I4210149064","display_name":"Greenwood Genetic Center","ror":"https://ror.org/03p64mj41","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210149064"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Charles E. Schwartz","raw_affiliation_strings":["Center for Molecular Studies, JC Self Research Institute for Human Genetics, Greenwood, SC, USA","JC Self Research Institute for Human Genetics"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Molecular Studies, JC Self Research Institute for Human Genetics, Greenwood, SC, USA","institution_ids":["https://openalex.org/I4210149064"]},{"raw_affiliation_string":"JC Self Research Institute for Human Genetics","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5073755970","display_name":"Henk P. Giele","orcid":"https://orcid.org/0000-0003-2017-5193","observed_orcids":["https://orcid.org/0000-0003-2017-5193"]},"institutions":[{"id":"https://openalex.org/I2802742124","display_name":"John Radcliffe Hospital","ror":"https://ror.org/0080acb59","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2802742124","https://openalex.org/I4210127145","https://openalex.org/I4210147381"]},{"id":"https://openalex.org/I40120149","display_name":"University of Oxford","ror":"https://ror.org/052gg0110","country_code":"GB","type":"education","lineage":["https://openalex.org/I40120149"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Henk Giele","raw_affiliation_strings":["Department of Plastic and Reconstructive Surgery, John Radcliffe Hospital, Oxford, UK","John Radcliffe Hospital"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Plastic and Reconstructive Surgery, John Radcliffe Hospital, Oxford, UK","institution_ids":["https://openalex.org/I2802742124","https://openalex.org/I40120149"]},{"raw_affiliation_string":"John Radcliffe Hospital","institution_ids":["https://openalex.org/I2802742124"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5015376243","display_name":"Andrew O.M. Wilkie","orcid":"https://orcid.org/0000-0002-2972-5481","observed_orcids":["https://orcid.org/0000-0002-2972-5481","https://orcid.org/0009-0004-0847-0143"]},"institutions":[{"id":"https://openalex.org/I2802742124","display_name":"John Radcliffe Hospital","ror":"https://ror.org/0080acb59","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2802742124","https://openalex.org/I4210127145","https://openalex.org/I4210147381"]},{"id":"https://openalex.org/I40120149","display_name":"University of Oxford","ror":"https://ror.org/052gg0110","country_code":"GB","type":"education","lineage":["https://openalex.org/I40120149"]}],"countries":["GB"],"is_corresponding":true,"raw_author_name":"Andrew O. M. Wilkie","raw_affiliation_strings":["Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK","John Radcliffe Hospital"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK","institution_ids":["https://openalex.org/I2802742124","https://openalex.org/I40120149"]},{"raw_affiliation_string":"John Radcliffe Hospital","institution_ids":["https://openalex.org/I2802742124"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5015376243"],"corresponding_institution_ids":["https://openalex.org/I2802742124","https://openalex.org/I40120149"],"apc_list":{"value":3690,"currency":"USD","value_usd":3690},"apc_paid":{"value":3690,"currency":"USD","value_usd":3690},"fwci":1.7429,"has_fulltext":true,"cited_by_count":22,"citation_normalized_percentile":{"value":0.78962536,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":97},"biblio":{"volume":"122","issue":"2","first_page":"191","last_page":"199"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T13107","display_name":"Congenital limb and hand anomalies","score":1.0,"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"}},"topics":[{"id":"https://openalex.org/T13107","display_name":"Congenital limb and hand anomalies","score":1.0,"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/T11919","display_name":"dental development and anomalies","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular 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/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.0,"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/ectrodactyly","display_name":"ectrodactyly","score":0.847000002861023},{"id":"https://openalex.org/keywords/tibial-hypoplasia","display_name":"tibial hypoplasia","score":0.7929999828338623},{"id":"https://openalex.org/keywords/gli2","display_name":"GLI2","score":0.8859999775886536},{"id":"https://openalex.org/keywords/inhbb","display_name":"INHBB","score":0.9990000128746033},{"id":"https://openalex.org/keywords/ralb","display_name":"RalB","score":0.9670000076293945},{"id":"https://openalex.org/keywords/limb-development","display_name":"limb development","score":0.675000011920929},{"id":"https://openalex.org/keywords/cis-regulatory-elements","display_name":"cis-regulatory elements","score":0.8270000219345093},{"id":"https://openalex.org/keywords/genetic-mapping","display_name":"gene mapping","score":0.5040000081062317}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.8788536787033081},{"id":"https://openalex.org/C2776790153","wikidata":"https://www.wikidata.org/wiki/Q650026","display_name":"Ectrodactyly","level":3,"score":0.8054217100143433},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.7941198348999023},{"id":"https://openalex.org/C138626823","wikidata":"https://www.wikidata.org/wiki/Q916504","display_name":"Chromosomal translocation","level":3,"score":0.7161703109741211},{"id":"https://openalex.org/C84597430","wikidata":"https://www.wikidata.org/wiki/Q106227","display_name":"Locus (genetics)","level":3,"score":0.6889388561248779},{"id":"https://openalex.org/C86370654","wikidata":"https://www.wikidata.org/wiki/Q2277862","display_name":"Limb development","level":3,"score":0.5588361024856567},{"id":"https://openalex.org/C206936463","wikidata":"https://www.wikidata.org/wiki/Q634179","display_name":"Breakpoint","level":4,"score":0.5336158275604248},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.39916694164276123},{"id":"https://openalex.org/C2777304866","wikidata":"https://www.wikidata.org/wiki/Q1323713","display_name":"Ectodermal dysplasia","level":2,"score":0.06525248289108276}],"mesh":[{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002874","descriptor_name":"Chromosome Mapping","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002889","descriptor_name":"Chromosomes, Human, Pair 2","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005532","descriptor_name":"Foot Deformities, Congenital","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005532","descriptor_name":"Foot Deformities, Congenital","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D006228","descriptor_name":"Hand Deformities, Congenital","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006228","descriptor_name":"Hand Deformities, Congenital","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","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":"D009693","descriptor_name":"Nucleic Acid Hybridization","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013977","descriptor_name":"Tibia","qualifier_ui":"Q000002","qualifier_name":"abnormalities","is_major_topic":true},{"descriptor_ui":"D013977","descriptor_name":"Tibia","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D014178","descriptor_name":"Translocation, Genetic","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D015139","descriptor_name":"Blotting, Southern","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017404","descriptor_name":"In Situ Hybridization, Fluorescence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017931","descriptor_name":"DNA Primers","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D022202","descriptor_name":"Chromosomes, Artificial, Bacterial","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1007/s00439-007-0390-7","doi":"https://doi.org/10.1007/s00439-007-0390-7","is_oa":true,"landing_page_url":"https://doi.org/10.1007/s00439-007-0390-7","pdf_url":"https://link.springer.com/content/pdf/10.1007/s00439-007-0390-7.pdf","source":{"id":"https://openalex.org/S199832308","display_name":"Human Genetics","issn_l":"0018-7348","issn":["0018-7348","0340-6717","1432-1203"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Genetics","raw_type":"journal-article"},{"id":"pmid:17569090","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/17569090","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":"Human genetics","raw_type":"Comparative Study"}],"best_oa_location":{"id":"doi:10.1007/s00439-007-0390-7","doi":"https://doi.org/10.1007/s00439-007-0390-7","is_oa":true,"landing_page_url":"https://doi.org/10.1007/s00439-007-0390-7","pdf_url":"https://link.springer.com/content/pdf/10.1007/s00439-007-0390-7.pdf","source":{"id":"https://openalex.org/S199832308","display_name":"Human Genetics","issn_l":"0018-7348","issn":["0018-7348","0340-6717","1432-1203"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Genetics","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.8048999905586243,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[{"id":"https://openalex.org/G1200493264","display_name":"A de novo t(2;18) translocation associated with tibial hypoplasia and oligodactyly: a new locus for limb patterning?","funder_award_id":"072761","funder_id":"https://openalex.org/F4320311904","funder_display_name":"Wellcome Trust"},{"id":"https://openalex.org/G2022738400","display_name":"Skulls, limbs and sperm: common themes in malformation.","funder_award_id":"078666","funder_id":"https://openalex.org/F4320311904","funder_display_name":"Wellcome Trust"},{"id":"https://openalex.org/G910678935","display_name":null,"funder_award_id":"004098","funder_id":"https://openalex.org/F4320311904","funder_display_name":"Wellcome Trust"}],"funders":[{"id":"https://openalex.org/F4320311904","display_name":"Wellcome Trust","ror":"https://ror.org/029chgv08"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2002339262.pdf","grobid_xml":"https://content.openalex.org/works/W2002339262.grobid-xml"},"referenced_works_count":43,"referenced_works":["https://openalex.org/W1482923899","https://openalex.org/W1519911583","https://openalex.org/W1534987406","https://openalex.org/W1588637161","https://openalex.org/W1592555477","https://openalex.org/W1980477525","https://openalex.org/W1982940571","https://openalex.org/W1992142440","https://openalex.org/W1994452395","https://openalex.org/W2008249067","https://openalex.org/W2014191275","https://openalex.org/W2016840856","https://openalex.org/W2019670380","https://openalex.org/W2021481221","https://openalex.org/W2034188339","https://openalex.org/W2044068442","https://openalex.org/W2046892257","https://openalex.org/W2049060775","https://openalex.org/W2059614045","https://openalex.org/W2060392690","https://openalex.org/W2060823106","https://openalex.org/W2072767627","https://openalex.org/W2077132193","https://openalex.org/W2079477526","https://openalex.org/W2080877192","https://openalex.org/W2091312314","https://openalex.org/W2091619234","https://openalex.org/W2095921081","https://openalex.org/W2098554686","https://openalex.org/W2103684328","https://openalex.org/W2106554405","https://openalex.org/W2109479427","https://openalex.org/W2115414474","https://openalex.org/W2120048655","https://openalex.org/W2121370826","https://openalex.org/W2124424948","https://openalex.org/W2124447638","https://openalex.org/W2137987108","https://openalex.org/W2153145187","https://openalex.org/W2170421665","https://openalex.org/W2172240708","https://openalex.org/W2184430395","https://openalex.org/W2992434968"],"related_works":["https://openalex.org/W2129049674","https://openalex.org/W1975758599","https://openalex.org/W1932576728","https://openalex.org/W2072767627","https://openalex.org/W2078644435","https://openalex.org/W2145567210","https://openalex.org/W2163507220","https://openalex.org/W2247787956","https://openalex.org/W2809888153","https://openalex.org/W304415509"],"abstract_inverted_index":{"Split":[0],"hand/foot":[1],"malformation":[2],"(SHFM)":[3],"with":[4,26,47,124,160,165],"long":[5,129],"bone":[6,130],"deficiency":[7],"(SHFLD)":[8],"is":[9],"a":[10,44,51,92,142,158,161,178,187],"distinct":[11],"entity":[12],"in":[13,84,94,110,120],"the":[14,59,69,97,102,139,168,171],"spectrum":[15],"of":[16,58,91,108,157,170,180],"ectrodactylous":[17,172],"limb":[18,85],"malformations":[19],"characterised":[20],"by":[21,30,151],"associated":[22,164],"tibial":[23],"a/hypoplasia.":[24],"Pedigrees":[25],"multiple":[27],"individuals":[28],"affected":[29],"SHFLD":[31,48,126],"often":[32],"include":[33],"non-penetrant":[34],"intermediate":[35],"relatives,":[36],"making":[37],"genetic":[38],"mapping":[39,169],"difficult.":[40],"Here":[41],"we":[42,104],"report":[43],"sporadic":[45],"patient":[46],"who":[49],"carries":[50],"de":[52],"novo":[53],"chromosomal":[54],"translocation":[55,159],"t(2;18)(q14.2;p11.2).":[56],"Characterisation":[57],"breakpoints":[60],"revealed":[61],"that":[62,141,184],"neither":[63],"disrupts":[64],"any":[65],"known":[66,80],"gene;":[67],"however,":[68],"chromosome":[70,98],"2":[71,99],"breakpoint":[72,100,163],"lies":[73],"between":[74],"GLI2":[75],"and":[76,113,118,167],"INHBB,":[77],"two":[78,114],"genes":[79,116],"to":[81,96,177],"be":[82,149],"involved":[83],"development.":[86],"To":[87],"investigate":[88],"whether":[89],"mutation":[90,176],"gene":[93],"proximity":[95],"underlies":[101],"SHFLD,":[103],"sought":[105],"independent":[106],"evidence":[107],"mutations":[109,135],"GLI2,":[111],"INHBB":[112],"other":[115],"(RALB":[117],"FLJ14816)":[119],"44":[121],"unrelated":[122],"patients":[123],"SHFM,":[125],"or":[127],"isolated":[128],"deficiency.":[131],"No":[132],"convincing":[133],"pathogenic":[134],"were":[136],"found,":[137],"raising":[138],"possibility":[140],"long-range":[143],"cis":[144],"acting":[145],"regulatory":[146],"element":[147],"may":[148],"disrupted":[150],"this":[152],"translocation.":[153],"The":[154],"previous":[155],"description":[156],"2q14.2":[162,185],"ectrodactyly,":[166],"Dominant":[173],"hemimelia":[174],"mouse":[175],"region":[179],"homologous":[181],"synteny,":[182],"suggests":[183],"represents":[186],"novel":[188],"locus":[189],"for":[190],"SHFLD.":[191]},"counts_by_year":[{"year":2023,"cited_by_count":1},{"year":2021,"cited_by_count":2},{"year":2016,"cited_by_count":2},{"year":2015,"cited_by_count":2},{"year":2014,"cited_by_count":2},{"year":2013,"cited_by_count":3},{"year":2012,"cited_by_count":2}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}