{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,3]],"date-time":"2026-07-03T01:11:54Z","timestamp":1783041114480,"version":"3.54.6"},"reference-count":9,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2016,3,4]],"date-time":"2016-03-04T00:00:00Z","timestamp":1457049600000},"content-version":"vor","delay-in-days":3,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"SERB, DST, Government of India, New Delhi","award":["SB\/YS\/LS-46\/2013"],"award-info":[{"award-number":["SB\/YS\/LS-46\/2013"]}]},{"name":"CSIR-New Delhi"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Congenital Anomalies"],"published-print":{"date-parts":[[2016,3]]},"abstract":"Abstract<\/jats:title>The GLI<\/jats:styled-content>3 protein is a zinc finger transcription factor, expressed early in development. The GLI<\/jats:italic><\/jats:styled-content>3<\/jats:italic> gene exhibits allelic heterogeneity as mutations in this gene are associated with several developmental syndromic and non\u2010syndromic polydactyly. The present study reports two cases: first, a familial case of G<\/jats:styled-content>reig C<\/jats:styled-content>ephalopolysyndactyly Syndrome (GCPS<\/jats:styled-content>); the second is a sporadic case with both postaxial polydactyly (PAP<\/jats:styled-content>) type A and B. Resequencing of GLI<\/jats:italic><\/jats:styled-content>3<\/jats:italic> gene reveals a previously reported nonsense truncation mutation g.42007251G\u2009>\u2009A (p.R792X; rs121917714) in the GCPS<\/jats:styled-content> family and a novel single nucleotide insertion g.42004239_42004240insA (p.E1478X) in the sporadic case of postaxial polydactyly (PAP<\/jats:styled-content>). Both nonsense truncation mutations; p.R792X (GCPS<\/jats:styled-content>) and p.E1478X (PAP<\/jats:styled-content>) introduce a premature stop codon leading to loss of C<\/jats:styled-content>\u2010terminal domains.<\/jats:p>","DOI":"10.1111\/cga.12139","type":"journal-article","created":{"date-parts":[[2015,10,28]],"date-time":"2015-10-28T04:21:04Z","timestamp":1446006064000},"page":"94-97","source":"Crossref","is-referenced-by-count":15,"title":["GLI<\/i><\/scp>3<\/i> mutations in syndromic and non\u2010syndromic polydactyly in two I<\/scp>ndian families"],"prefix":"10.1111","volume":"56","author":[{"given":"Rashmi","family":"Patel","sequence":"first","affiliation":[{"name":"Centre for Genetic Disorders Faculty of Science Banaras Hindu University Varanasi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chandra Bhan","family":"Singh","sequence":"additional","affiliation":[{"name":"Centre for Genetic Disorders Faculty of Science Banaras Hindu University Varanasi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Visweswar","family":"Bhattacharya","sequence":"additional","affiliation":[{"name":"Department of Plastic Surgery Institute of Medical Sciences Banaras Hindu University Varanasi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Subodh Kumar","family":"Singh","sequence":"additional","affiliation":[{"name":"G S Memorial Plastic Surgery Hospital & Trauma Center Varanasi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2444-8400","authenticated-orcid":false,"given":"Akhtar","family":"Ali","sequence":"additional","affiliation":[{"name":"Centre for Genetic Disorders Faculty of Science Banaras Hindu University Varanasi India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,3,4]]},"reference":[{"key":"e_1_2_7_2_1","volume-title":"GeneReviews\u00ae [Internet]","author":"Biesecker LG","year":"2001"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-3-10"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13353-012-0109-x"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21328"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0007471"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1741-4520.2006.00114.x"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mgene.2014.11.002"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1086\/302557"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-013-1938-2"}],"container-title":["Congenital Anomalies"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcga.12139","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcga.12139","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cga.12139","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,24]],"date-time":"2023-09-24T10:27:17Z","timestamp":1695551237000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cga.12139"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,3]]},"references-count":9,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2016,3]]}},"alternative-id":["10.1111\/cga.12139"],"URL":"https:\/\/doi.org\/10.1111\/cga.12139","archive":["Portico"],"relation":{},"ISSN":["0914-3505","1741-4520"],"issn-type":[{"value":"0914-3505","type":"print"},{"value":"1741-4520","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,3]]}}}