A Novel Homozygous Nonsense Mutation p.Cys366* in the WNT10B Gene Underlying Split-Hand/Split Foot Malformation in a Consanguineous Pakistani Family

Split hand/split foot malformation (SHFM) or ectrodactyly is characterized by a deep median cleft of the hand or foot, hypoplasia or aplasia of the metacarpals, metatarsals, and phalanges. It is a clinically and genetically heterogeneous group of limb malformations. This study aimed to identify the...

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Publicado en:Front Pediatr
Autores principales: Khan, Amjad, Wang, Rongrong, Han, Shirui, Umair, Muhammad, Alshabeeb, Mohammad A., Ansar, Muhammad, Ahmad, Wasim, Alaamery, Manal, Zhang, Xue
Formato: Artigo
Lenguaje:Inglês
Publicado: Frontiers Media S.A. 2020
Materias:
Pediatrics
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6970189/
https://ncbi.nlm.nih.gov/pubmed/31998667
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fped.2019.00526
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