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Article

Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism.

American journal of medical genetics. Part A - 1 Jan 2014

Johnston Jennifer J, Sapp Julie C, Curry Cynthia, Horton Margaret, Leon Eyby, Cusmano-Ozog Kristina, Dobyns William B, Hudgins Louanne, Zackai Elaine, Biesecker Leslie G

Abstract excerpt

The TARP syndrome (Talipes equinovarus, Atrial septal defect, Robin sequence, and Persistent left superior vena cava) is an X-linked disorder that was determined to be caused by mutations in RBM10 in two families, and confirmed in a subsequent case report. The first two original families were qui...

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Source

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Identifiers

PMID: 24259342
DOI: 10.1002/ajmg.a.36212
PMCID: PMC4443488

Genes

TARP
RBM10

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24259342-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism.PMID 24259342Read ↗

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

A TARP Syndrome Phenotype Is Associated with a Novel Splicing Variant in RBM10.Semantic proximity Read ↗

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

Clinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM10 alteration.Semantic proximity Read ↗

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

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

Non-Mosaic Trisomy 9: Further Delineation of the Clinical Phenotype.Semantic proximity Read ↗

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