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Article

Mechanism, prevalence, and more severe neuropathy phenotype of the Charcot-Marie-Tooth type 1A triplication.

American journal of human genetics - 6 Mar 2014

Liu Pengfei, Gelowani Violet, Zhang Feng, Drory Vivian E, Ben-Shachar Shay, Roney Erin, Medeiros Adam C, Moore Rebecca J, DiVincenzo Christina, Burnette William B, Higgins Joseph J, Li Jun, Orr-Urtreger Avi, Lupski James R

Abstract excerpt

Copy-number variations cause genomic disorders. Triplications, unlike deletions and duplications, are poorly understood because of challenges in molecular identification, the choice of a proper model system for study, and awareness of their phenotypic consequences. We investigated the genomic dis...

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Identifiers

PMID: 24530202
DOI: 10.1016/j.ajhg.2014.01.017
PMCID: PMC3951935

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24530202-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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