Ontology highlight
ABSTRACT:
SUBMITTER: Johnston JJ
PROVIDER: S-EPMC4443488 | biostudies-literature | 2014 Jan
REPOSITORIES: biostudies-literature
American journal of medical genetics. Part A 20131120 1
The TARP syndrome (Talipes equinovarus, Atrial septal defect, Robin sequence, and Persistent left superior vena cava) is an X-linked disorder that was determined to be caused by mutations in RBM10 in two families, and confirmed in a subsequent case report. The first two original families were quite similar in phenotype, with uniform early lethality although a confirmatory case report showed survival into childhood. Here we report on five affecteds from three newly recognized families, including ...[more]