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Article

Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia.

European journal of human genetics : EJHG - 1 Sept 2014

Pehlivan Davut, Karaca Ender, Aydin Hatip, Beck Christine R, Gambin Tomasz, Muzny Donna M, Bilge Geckinli B, Karaman Ali, Jhangiani Shalini N, Gibbs Richard A, Lupski James R

Abstract excerpt

Whole-exome sequencing (WES) is a type of disruptive technology that has tremendous influence on human and clinical genetics research. An efficient and cost-effective method, WES is now widely used as a diagnostic tool for identifying the molecular basis of genetic syndromes that are often challenging to diagnose. Here we report a patient with a clinical diagnosis of cerebro-facio-thoracic dysplasia (CFTD;...

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Source

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Identifiers

PMID: 24424126
DOI: 10.1038/ejhg.2013.291
PMCID: PMC4135405

Genes

TMCO1

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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