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Article

Somatic mosaicism for a lethal TRPV4 mutation results in non-lethal metatropic dysplasia.

American journal of medical genetics. Part A - 1 Dec 2016

Weinstein Michael M, Kang Taekyu, Lachman Ralph S, Bamshad Michael, Nickerson Deborah A, Krakow Deborah, Cohn Daniel H

Abstract excerpt

Dominant mutations in TRPV4, which encodes the Transient Receptor Potential Cation Channel Subfamily V Member 4 calcium channel, result in a series of musculoskeletal disorders that include a set of peripheral neuropathies and a broad phenotypic spectrum of skeletal dysplasias. The skeletal phenotypes range from brachyolmia, in which there is scoliosis with mild short stature, through perinatal lethal metatropic...

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Source

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Identifiers

PMID: 27530454
DOI: 10.1002/ajmg.a.37942
PMCID: PMC5115972

Genes

TRPV4

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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