Abnormal liver function tests and improved survival in a child with splice mutation TARP syndrome
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DOI: 10.1136/bcr-2022-253035
Abstract: TARP (talipes equinovarus, atrial septal defect (ASD), Robin sequence, persistent left superior vena cava) syndrome is a rare X-linked disorder affecting the RBM10 gene. It was previously viewed as universally fatal in the early neonatal… read more here.
Keywords: function tests; tarp syndrome; abnormal liver; liver function ... See more keywords