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Article

Abnormal liver function tests and improved survival in a child with splice mutation TARP syndrome.

BMJ case reports - 21 Mar 2023

Lane Michael, Allen Nicholas M, Letshwiti Johannes

Abstract excerpt

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 period, however, recent cases have shown patients surviving beyond this stage. We present a male toddler diagnosed with TARP syndrome due to a a previously unreported splicing...

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Identifiers

PMID: 36944446
DOI: 10.1136/bcr-2022-253035
PMCID: PMC10032413

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