A TARP Syndrome Phenotype Is Associated with a Novel Splicing Variant in RBM10

TARP syndrome (Talipes equinovarus, Atrial septal defect, Robin sequence, and Persistence of the left superior vena cava) is a rare genetic condition, caused by developmental defects during embryogenesis. The phenotypic spectrum of TARP shows high clinical variability with patients either missing ca...

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Detalles Bibliográficos
Autores principales: Owczarek-Lipska, Marta, Markus, Fenja, Bültmann, Eva, Korenke, G. Christoph, Neidhardt, John
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9691016/
https://www.ncbi.nlm.nih.gov/pubmed/36421828
http://dx.doi.org/10.3390/genes13112154

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9691016/
https://www.ncbi.nlm.nih.gov/pubmed/36421828
http://dx.doi.org/10.3390/genes13112154

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