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

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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Bibliographic Details
Main Authors: Amjad Khan, Rongrong Wang, Shirui Han, Muhammad Umair, Mohammad A. Alshabeeb, Muhammad Ansar, Wasim Ahmad, Manal Alaamery, Xue Zhang
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-01-01
Series:Frontiers in Pediatrics
Subjects:
Pakistani family
SHFM
autosomal recessive mode
gene variant
non-sense mutation
Online Access:https://www.frontiersin.org/article/10.3389/fped.2019.00526/full

Internet

https://www.frontiersin.org/article/10.3389/fped.2019.00526/full

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