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

• প্রধান লেখক: Amjad Khan (লেখক), Rongrong Wang (লেখক), Shirui Han (লেখক), Muhammad Umair (লেখক), Mohammad A. Alshabeeb (লেখক), Muhammad Ansar (লেখক), Wasim Ahmad (লেখক), Manal Alaamery (লেখক), Xue Zhang (লেখক)
• বিন্যাস: গ্রন্থ
• প্রকাশিত: Frontiers Media S.A., 2020-01-01T00:00:00Z.
• বিষয়গুলি: article
• অনলাইন ব্যবহার করুন: 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...