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Article

TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families.

Orphanet journal of rare diseases - 9 Jun 2011

Andreucci Elena, Aftimos Salim, Alcausin Melanie, Haan Eric, Hunter Warwick, Kannu Peter, Kerr Bronwyn, McGillivray George, McKinlay Gardner R J, Patricelli Maria G, Sillence David, Thompson Elizabeth, Zacharin Margaret, Zankl Andreas, Lamandé Shireen R, Savarirayan Ravi

Abstract excerpt

BACKGROUND: The TRPV4 gene encodes a calcium-permeable ion-channel that is widely expressed, responds to many different stimuli and participates in an extraordinarily wide range of physiologic processes. Autosomal dominant brachyolmia, spondylometaphyseal dysplasia Kozlowski type (SMDK) and metatropic dysplasia (MD) are currently considered three distinct skeletal dysplasias with some shared clinical features,...

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Source

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Identifiers

PMID: 21658220
DOI: 10.1186/1750-1172-6-37
PMCID: PMC3135501

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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Comparison of the natural course of clinical and radiologic features in 13 patients with TRPV4-related skeletal dysplasias.Semantic proximity Read ↗

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