{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T00:46:51Z","timestamp":1787014011845,"version":"build-2736575974"},"reference-count":22,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2019,4,22]],"date-time":"2019-04-22T00:00:00Z","timestamp":1555891200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2019,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Pre\u2010axial polydactyly (PPD) is characterized by well\u2010developed non\u2010functional 1st digit (thumb) duplication in hands and\/or feet. It is mostly inherited in autosomal dominant manner. In the present study, two families of Pakistani origin, demonstrating unilateral PPD type A, have been characterized at clinical and genetic levels. Whole\u2010exome sequencing (WES) revealed a nonsense mutation (c.84C\u2009&gt;\u2009A, p.Tyr28*) in the\n                    <jats:italic>STKLD1<\/jats:italic>\n                    , located on chromosome 9q34.2, in affected individuals of both the families. Our findings report the first direct involvement of the\n                    <jats:italic>STKLD1<\/jats:italic>\n                    in the digit development and highlight the importance of inclusion of this gene for screening individuals presenting non\u2010syndromic recessive PPD.\n                  <\/jats:p>","DOI":"10.1111\/cge.13547","type":"journal-article","created":{"date-parts":[[2019,4,4]],"date-time":"2019-04-04T02:55:43Z","timestamp":1554346543000},"page":"134-139","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Whole\u2010exome sequencing revealed a nonsense mutation in\n                    <i>STKLD1<\/i>\n                    causing non\u2010syndromic pre\u2010axial polydactyly type A affecting only upper limb"],"prefix":"10.1111","volume":"96","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6729-9746","authenticated-orcid":false,"given":"Muhammad","family":"Umair","sequence":"first","affiliation":[{"name":"Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Science Ministry of National Guard\u2010Health Affairs (MNGHA)  Riyadh Saudi Arabia"},{"name":"Department of Biochemistry Quaid\u2010i\u2010Azam University  Islamabad Pakistan"},{"name":"Institute of Human Genetics Technische Universitat Munchen  Munchen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad","family":"Bilal","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Quaid\u2010i\u2010Azam University  Islamabad Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raja H.","family":"Ali","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Quaid\u2010i\u2010Azam University  Islamabad Pakistan"},{"name":"Division of Hematology\/Oncology Boston Children's Hospital  Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bader","family":"Alhaddad","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Technische Universitat Munchen  Munchen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Farooq","family":"Ahmad","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Quaid\u2010i\u2010Azam University  Islamabad Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"family":"Abdullah","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Quaid\u2010i\u2010Azam University  Islamabad Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tobias B.","family":"Haack","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Technische Universitat Munchen  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