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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Detalles Bibliográficos
Autores principales: Tian, Hong, Chu, Fan, Li, Yingjie, Xu, Mengmeng, Li, Wenjiao, Li, Chuanzhou
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9513373/
https://www.ncbi.nlm.nih.gov/pubmed/36176297
http://dx.doi.org/10.3389/fgene.2022.946854

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9513373/
https://www.ncbi.nlm.nih.gov/pubmed/36176297
http://dx.doi.org/10.3389/fgene.2022.946854

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