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

• Main Authors: Amjad Khan (Author), Rongrong Wang (Author), Shirui Han (Author), Muhammad Umair (Author), Mohammad A. Alshabeeb (Author), Muhammad Ansar (Author), Wasim Ahmad (Author), Manal Alaamery (Author), Xue Zhang (Author)
• Formato: Livro
• Publicado em: Frontiers Media S.A., 2020-01-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

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...