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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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Principais autores: Hong Tian, Fan Chu, Yingjie Li, Mengmeng Xu, Wenjiao Li, Chuanzhou Li
Format: Artigo
Sprog:Inglês
Udgivet: Frontiers Media S.A. 2022-09-01
Serier:Frontiers in Genetics
Fag:
ARHGAP31
FBLN1
AOS
Cdc42
syndactyly
Limb defects
Online adgang:https://www.frontiersin.org/articles/10.3389/fgene.2022.946854/full
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