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Article

Phenotypic spectrum of the RBM10-mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features.

Clinical genetics - 1 Mar 2021

Kumps Candy, D'haenens Erika, Vergult Sarah, Leus Jasmine, van Coster Rudy, Jansen Anna, Devriendt Koen, Oostra Anna, Vanakker Olivier M

Abstract excerpt

Pathogenic variants in the RBM10 gene cause a rare X-linked disorder described as TARP (Talipes equinovarus, Atrial septal defect, Robin sequence, and Persistent left vena cava superior) syndrome. We report two novel patients with truncating RBM10 variants in view of the literature, presenting a total of 26 patients from 15 unrelated families. Our results illustrate the highly pleiotropic nature of RBM10...

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Source

Identifiers

PMID: 33340101
DOI: 10.1111/cge.13901

Genes

RBM10
TARP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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