{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T02:41:20Z","timestamp":1772160080426,"version":"3.50.1"},"reference-count":17,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2024,12,5]],"date-time":"2024-12-05T00:00:00Z","timestamp":1733356800000},"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":[[2025,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Limb abnormalities are the second most frequent birth defects seen in infants, after congenital heart disease. Over the past 150\u2009years, more than 50 classifications for limb malformations based on morphology and osseous anatomy have been presented. The goal of the current study is to investigate the genetic basis of congenital limb abnormalities in the Pakistani population. Eight families, presenting different forms of limb anomalies, including syndactyly, polydactyly, synpolydactyly, and ectrodactyly in an autosomal dominant manner, were genetically and clinically investigated. Whole exome sequencing followed by Sanger sequencing was used to search for the disease\u2010causing variants. Sequence analysis revealed five novel variants in\n                    <jats:italic>LMBR1<\/jats:italic>\n                    ,\n                    <jats:italic>GJA1<\/jats:italic>\n                    ,\n                    <jats:italic>HOXD13,<\/jats:italic>\n                    and\n                    <jats:italic>TP63<\/jats:italic>\n                    and three previously reported variants in\n                    <jats:italic>GJA1<\/jats:italic>\n                    and\n                    <jats:italic>HOXD13<\/jats:italic>\n                    . This study expanded the mutation spectrum in the identified genes and will also help in improved diagnosis of the limb anomalies in the local population.\n                  <\/jats:p>","DOI":"10.1111\/cge.14668","type":"journal-article","created":{"date-parts":[[2024,12,6]],"date-time":"2024-12-06T01:20:54Z","timestamp":1733448054000},"page":"463-468","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Unraveling the Genetic Basis of Congenital Limb Anomalies in Eight Families"],"prefix":"10.1111","volume":"107","author":[{"given":"Inam Ullah","family":"Khan","sequence":"first","affiliation":[{"name":"Department of Biochemistry Faculty of Biological Sciences, Quaid\u2010i\u2010Azam University  Islamabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"family":"Abdullah","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Faculty of Biological Sciences, Quaid\u2010i\u2010Azam University  Islamabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hammal","family":"Khan","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Faculty of Biological Sciences, Quaid\u2010i\u2010Azam University  Islamabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amjad","family":"Ali","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Faculty of Biological Sciences, Quaid\u2010i\u2010Azam University  Islamabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ayesha","family":"Sani","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Faculty of Biological Sciences, Quaid\u2010i\u2010Azam University  Islamabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fati Ullah","family":"Khan","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Faculty of Biological Sciences, Quaid\u2010i\u2010Azam University  Islamabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muhammad Tahir","family":"Ullah","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Faculty of Biological Sciences, Quaid\u2010i\u2010Azam University  Islamabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sohail","family":"Ahmed","sequence":"additional","affiliation":[{"name":"Institute of Biochemistry, University of Balochistan  Quetta Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Romana","family":"Liaqat","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Faculty of Biological Sciences, Quaid\u2010i\u2010Azam University  Islamabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Awais","family":"Haider","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Faculty of Biological Sciences, Quaid\u2010i\u2010Azam University  Islamabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kifayat","family":"Ullah","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Faculty of Biological Sciences, Quaid\u2010i\u2010Azam University  Islamabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naseeb","family":"Ullah","sequence":"additional","affiliation":[{"name":"Institute of Biochemistry, University of Balochistan  Quetta Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muhammad Sajid","family":"Khan","sequence":"additional","affiliation":[{"name":"Department of Bioinformatics and Biosciences Capital University of Science and Technology (CUST)  Islamabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shabir","family":"Hussain","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Faculty of Biological Sciences, Quaid\u2010i\u2010Azam University  Islamabad Pakistan"},{"name":"Clinical and Molecular Metabolism Research Program (CAMM), Faculty of Medicine, University of Helsinki  Helsinki Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Imran","family":"Ullah","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Faculty of Biological Sciences, Quaid\u2010i\u2010Azam University  Islamabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Asmat","family":"Ullah","sequence":"additional","affiliation":[{"name":"Department of Biomedicine\u2010Human Genetics Aarhus University  Aarhus Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariam","family":"Anees","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Faculty of Biological Sciences, Quaid\u2010i\u2010Azam University  Islamabad 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