A TARP Syndrome Phenotype Is Associated with a Novel Splicing Variant in RBM10
A TARP Syndrome Phenotype Is Associated with a Novel Splicing Variant in RBM10
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Publisher
Switzerland: MDPI AG
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Language
English
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Publisher
Switzerland: MDPI AG
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Scope and Contents
Contents
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 trai...
Alternative Titles
Full title
A TARP Syndrome Phenotype Is Associated with a Novel Splicing Variant in RBM10
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9691016
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9691016
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ISSN
2073-4425
E-ISSN
2073-4425
DOI
10.3390/genes13112154
