Article
A TARP Syndrome Phenotype Is Associated with a Novel Splicing Variant in RBM10.
Genes - 18 Nov 2022
Owczarek-Lipska Marta, Markus Fenja, Bültmann Eva, Korenke G Christoph, Neidhardt John
Abstract excerpt
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 cardinal features or having additional clinical traits. Initially, TARP was considered a lethal syndrome, but patients...
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