{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T00:07:38Z","timestamp":1789949258957,"version":"4.0.1"},"reference-count":18,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2019,5,3]],"date-time":"2019-05-03T00:00:00Z","timestamp":1556841600000},"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":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2019,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Split\u2010hand\/foot malformation (SHFM) is a genetically heterogeneous congenital limb malformation typically limited to a defect of the central rays of the autopod, presenting as a median cleft of hands and feet. It can be associated with long bone deficiency or included in more complex syndromes. Among the numerous genetic causes, <jats:italic>WNT10B<\/jats:italic> homozygous variants have been recently identified in consanguineous families, but remain still rarely described (SHFM6; MIM225300). We report on three novel SHFM families harboring <jats:italic>WNT10B<\/jats:italic> variants and review the literature, allowing us to highlight some clinical findings. The feet are more severely affected than the hands and there is a frequent asymmetry without obvious side\u2010bias. Syndactyly of third\u2013fourth fingers was a frequent finding (62%). Polydactyly, which was classically described in SHFM6, was only present in 27% of patients. No genotype\u2013phenotype correlation is delineated but heterozygous individuals might have mild features of SHFM, suggesting a dose\u2010effect of the WNT10B loss\u2010of\u2010function.<\/jats:p>","DOI":"10.1002\/ajmg.a.61177","type":"journal-article","created":{"date-parts":[[2019,5,3]],"date-time":"2019-05-03T13:06:31Z","timestamp":1556888791000},"page":"1351-1356","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["<i>WNT10B<\/i> variants in split hand\/foot malformation: Report of three novel families and review of the literature"],"prefix":"10.1002","volume":"179","author":[{"given":"Perrine","family":"Brunelle","sequence":"first","affiliation":[{"name":"Clinique de G\u00e9n\u00e9tique Guy Fontaine H\u00f4pital Jeanne de Flandre, CHU Lille  Lille 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