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

• Główni autorzy: Amjad Khan (Autor), Rongrong Wang (Autor), Shirui Han (Autor), Muhammad Umair (Autor), Mohammad A. Alshabeeb (Autor), Muhammad Ansar (Autor), Wasim Ahmad (Autor), Manal Alaamery (Autor), Xue Zhang (Autor)
• Format: Książka
• Wydane: Frontiers Media S.A., 2020-01-01T00:00:00Z.
• Hasła przedmiotowe: article
• Dostęp online: 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...