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Article

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

American journal of human genetics - 14 May 2010

Johnston Jennifer J, Teer Jamie K, Cherukuri Praveen F, Hansen Nancy F, Loftus Stacie K, Chong Karen, Mullikin James C, Biesecker Leslie G

Abstract excerpt

Micrognathia, glossoptosis, and cleft palate comprise one of the most common malformation sequences, Robin sequence. It is a component of the TARP syndrome, talipes equinovarus, atrial septal defect, Robin sequence, and persistent left superior vena cava. This disorder is X-linked and severe, with apparently 100% pre- or postnatal lethality in affected males. Here we characterize a second family with TARP...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 20451169
DOI: 10.1016/j.ajhg.2010.04.007
PMCID: PMC2868995

Genes

TARP
RBM10

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate.PMID 20451169Read ↗

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