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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
MDPI
2022
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| Materias: | |
| 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 |