{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T00:08:03Z","timestamp":1789949283513,"version":"4.0.1"},"reference-count":25,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2018,1,25]],"date-time":"2018-01-25T00:00:00Z","timestamp":1516838400000},"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":["Clinical Genetics"],"published-print":{"date-parts":[[2018,3]]},"abstract":"<jats:p>Split\u2010hand\/split\u2010foot malformation (SHFM) is a severe form of congenital limb deformity characterized by the absence of 1 or more digits and\/or variable degree of median clefts of hands and feet. The present study describes an investigation of a consanguineous family of Pakistani origin segregating SHFM in an autosomal recessive manner. Human genome scan using SNP markers followed by whole exome sequencing revealed a frameshift deletion (c.409delA, p.Ser137Alafs*19) in the <jats:italic>EPS15L1<\/jats:italic> gene located on chromosome 19p13.11. This is the first biallelic variant identified in the <jats:italic>EPS15L1<\/jats:italic> gene underlying SHFM. Our findings report the first direct involvement of <jats:italic>EPS15L1<\/jats:italic> gene in the development of human limbs.<\/jats:p>","DOI":"10.1111\/cge.13152","type":"journal-article","created":{"date-parts":[[2017,10,10]],"date-time":"2017-10-10T13:22:48Z","timestamp":1507641768000},"page":"699-702","source":"Crossref","is-referenced-by-count":24,"title":["First direct evidence of involvement of a homozygous loss\u2010of\u2010function variant in the <i>EPS15L1<\/i> gene underlying split\u2010hand\/split\u2010foot malformation"],"prefix":"10.1111","volume":"93","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6729-9746","authenticated-orcid":false,"given":"M.","family":"Umair","sequence":"first","affiliation":[{"name":"Department of Biochemistry, Faculty of Biological Sciences Quaid\u2010i\u2010Azam University  Islamabad Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Ullah","sequence":"additional","affiliation":[{"name":"Department of 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