Synergistic effects of rare variants of ARHGAP31 and FBLN1 in vitro in terminal transverse limb defects

Synergistic effects of rare variants of ARHGAP31 and FBLN1 in vitro in terminal transverse limb defects

Background: Aplasia cutis congenita (ACC) and terminal transverse limb defects (TTLDs) are the most common features of Adams-Oliver syndrome (AOS). ARHGAP31 is one of the causative genes for autosomal dominant forms of AOS, meanwhile its variants may only cause isolated TTLD. Here, we report a proba...

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Bibliographic Details
Main Authors: Hong Tian, Fan Chu, Yingjie Li, Mengmeng Xu, Wenjiao Li, Chuanzhou Li
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-09-01
Series:Frontiers in Genetics
Subjects:
ARHGAP31
FBLN1
AOS
Cdc42
syndactyly
Limb defects
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.946854/full

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