Homozygous nonsense mutation of WNT10B gene in a Moroccan family with split-hand foot malformation identified by exome sequencing: a case report

Split-hand foot malformation (SHFM) is a clinically heterogeneous congenital limb defect affecting predominantly the central rays of hands and/or feet. The clinical expression varies in severity between patients as well between the limbs in the same individual. SHFM might be non-syndromic with limb-...

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Detalles Bibliográficos
Autores principales: Elalaoui, Siham Chafai, Fejjal, Nawfal, Li, Yun, Thiele, Holger, Altmüller, Janine, Guaoua, Soukaina, Nürnberg, Peter, Wollnik, Bernd, Sefiani, Abdelaziz, Ratbi, Ilham
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The African Field Epidemiology Network 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8348243/
https://www.ncbi.nlm.nih.gov/pubmed/34394812
http://dx.doi.org/10.11604/pamj.2021.39.21.26176

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