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Article

Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia.

American journal of medical genetics. Part A - 1 May 2010

Camacho Natalia, Krakow Deborah, Johnykutty Sharlin, Katzman Philip J, Pepkowitz Samuel, Vriens Joris, Nilius Bernd, Boyce Brendan F, Cohn Daniel H

Abstract excerpt

Metatropic dysplasia is a clinical heterogeneous skeletal dysplasia characterized by short extremities, a short trunk with progressive kyphoscoliosis, and craniofacial abnormalities that include a prominent forehead, midface hypoplasia, and a squared-off jaw. Dominant mutations in the gene encoding TRPV4, a calcium permeable ion channel, were identified all 10 of a series of metatropic dysplasia cases, ranging in...

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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: 20425821
DOI: 10.1002/ajmg.a.33392
PMCID: PMC4169191

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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Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia.PMID 20425821Read ↗

Somatic mosaicism for a lethal TRPV4 mutation results in non-lethal metatropic dysplasia.Semantic proximity Read ↗

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Metatropic Dysplasia with a Novel Mutation in TRPV4.Semantic proximity Read ↗

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