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Article

Natural history of TRPV4-Related disorders: From skeletal dysplasia to neuromuscular phenotype.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 May 2021

Ürel-Demir Gizem, Şimşek-Kiper Pelin Özlem, Öncel İbrahim, Utine Gülen Eda, Haliloğlu Göknur, Boduroğlu Koray

Abstract excerpt

TRPV4-related disorders constitute a broad spectrum of clinical phenotypes including several genetic skeletal and neuromuscular disorders, in which clinical variability and somewhat overlapping features are present. These disorders have previously been considered to be clinically distinct phenotypes before their molecular basis was discovered. However, with the identification of TRPV4 variants in the etiology,...

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Identifiers

PMID: 33774370
DOI: 10.1016/j.ejpn.2021.03.011

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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