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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...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2022
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| Materias: | |
| 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 |