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Article

Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations.

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

Nishimura Gen, Dai Jin, Lausch Ekkehart, Unger Sheila, Megarbané André, Kitoh Hiroshi, Kim Ok Hwa, Cho Tae-Joon, Bedeschi Francesca, Benedicenti Francesco, Mendoza-Londono Roberto, Silengo Margherita, Schmidt-Rimpler Maren, Spranger Jurgen, Zabel Bernhard, Ikegawa Shiro, Superti-Furga Andrea

Abstract excerpt

Recent discoveries have established the existence of a family of skeletal dysplasias caused by dominant mutations in TRPV4. This family comprises, in order of increasing severity, dominant brachyolmia, spondylo-metaphyseal dysplasia Kozlowski type, and metatropic dysplasia. We tested the hypothesis that a further condition, Spondylo-epiphyseal dysplasia (SED), Maroteaux type (MIM 184095; also known as...

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Identifiers

PMID: 20503319
DOI: 10.1002/ajmg.a.33414

Genes

TRPV4

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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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