{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,7]],"date-time":"2025-10-07T05:38:11Z","timestamp":1759815491579,"version":"3.37.3"},"reference-count":20,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2018,2,12]],"date-time":"2018-02-12T00:00:00Z","timestamp":1518393600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004681","name":"Higher Education Commission, Pakistan","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004681","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Human Genetics"],"published-print":{"date-parts":[[2018,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Ectodermal dysplasia syndactyly syndrome 1 (EDSS1) is a rare form of ectodermal dysplasia including anomalies of hair, nails, and teeth along with bilateral cutaneous syndactyly of hands and feet. In the present report, we performed a clinical and genetic characterization of a consanguineous Pakistani family with four individuals affected by EDSS1. We performed exome sequencing using DNA of one affected individual. Exome data analysis identified a novel homozygous missense variant (c.242T&gt;C; p.(Leu81Pro)) in <jats:italic>NECTIN4<\/jats:italic> (<jats:italic>PVRL4<\/jats:italic>). Sanger sequencing validated this variant and confirmed its cosegregation with the disease phenotype in the family members. Thus, our report adds a novel variant to the <jats:italic>NECTIN4<\/jats:italic> mutation spectrum and contributes to the <jats:italic>NECTIN4<\/jats:italic>\u2010related clinical characterization.<\/jats:p>","DOI":"10.1111\/ahg.12244","type":"journal-article","created":{"date-parts":[[2018,2,12]],"date-time":"2018-02-12T09:28:36Z","timestamp":1518427716000},"page":"232-238","source":"Crossref","is-referenced-by-count":9,"title":["A novel homozygous missense variant in <i>NECTIN4 (PVRL4)<\/i> causing ectodermal dysplasia cutaneous syndactyly syndrome"],"prefix":"10.1111","volume":"82","author":[{"given":"Farooq","family":"Ahmad","sequence":"first","affiliation":[{"name":"Department of Biochemistry, Faculty of Biological Sciences Quaid\u2010i\u2010Azam University  Islamabad Pakistan"},{"name":"Institute of Human Genetics University of Ulm  Ulm 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