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Article

Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene.

American journal of medical genetics. Part A - 1 Oct 2011

Gripp Karen W, Hopkins Elizabeth, Johnston Jennifer J, Krause Caitlin, Dobyns William B, Biesecker Leslie G

Abstract excerpt

TARP syndrome, comprising Talipes equinovarus, atrial septal defect (ASD), Robin sequence (micrognathia, glossoptosis, and cleft palate), and persistence of the left superior vena cava, is an X-linked condition with pre- or postnatal lethality in affected males. Based on linkage studies and massively parallel sequencing of X-chromosome exons in two families, the disease-causing gene was identified as RBM10. We...

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Source

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Identifiers

PMID: 21910224
DOI: 10.1002/ajmg.a.34190
PMCID: PMC3183328

Genes

RBM10
TARP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene.PMID 21910224Read ↗

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

Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate.Semantic proximity Read ↗

Designation of the TARP syndrome and linkage to Xp11.23-q13.3 without samples from affected patients.Semantic proximity Read ↗

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