A Frameshift RBM10 Variant Associated With TARP Syndrome

TARP syndrome is a rare X-linked genetic condition caused by mutations in the RBM10 gene. Primary clinical characteristics of TARP syndrome include Talipes equinovarus, Atrial septal defect, Robin sequence and Persistent left superior vena cava. Newly reported cases identified a few novel RBM10 vari...

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Detalles Bibliográficos
Autores principales: Daicheng, Han, Shiwen, Xia, Jingxuan, Zhang, Junbo, Hu, Bo, Wang
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/PMC9386080/
https://www.ncbi.nlm.nih.gov/pubmed/35991558
http://dx.doi.org/10.3389/fgene.2022.922048

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9386080/
https://www.ncbi.nlm.nih.gov/pubmed/35991558
http://dx.doi.org/10.3389/fgene.2022.922048

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