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Article

The importance of conventional radiography in the mutational analysis of skeletal dysplasias (the TRPV4 mutational family).

Pediatric radiology - 1 Jan 2012

Nemec Stefan F, Cohn Daniel H, Krakow Deborah, Funari Vincent A, Rimoin David L, Lachman Ralph S

Abstract excerpt

The spondylo and spondylometaphyseal dysplasias (SMDs) are characterized by vertebral changes and metaphyseal abnormalities of the tubular bones, which produce a phenotypic spectrum of disorders from the mild autosomal-dominant brachyolmia to SMD Kozlowski to autosomal-dominant metatropic dysplas...

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Topics

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Share to DNA Mutational Analysis
Share to TRPV4 gene
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Polymorphism, Single Nucleotide

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Source

Identifiers

PMID: 21863289
DOI: 10.1007/s00247-011-2229-6

Genes

TRPV4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-21863289-2026-09-04.1. Manifest publication-graph-cohort-2026-09-04.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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The importance of conventional radiography in the mutational analysis of skeletal dysplasias (the TRPV4 mutational family).PMID 21863289Read ↗

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Human skeletal dysplasia caused by a constitutive activated transient receptor potential vanilloid 4 (TRPV4) cation channel mutation.Semantic proximity Read ↗

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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 ↗

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

Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.Semantic proximity Read ↗

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

Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family.Semantic proximity Read ↗

Spondyloepimetaphyseal dysplasia-Maroteaux type due to dominant TRPV4 mutation: expanding the phenotype with a case report.Semantic proximity Read ↗

Natural history of TRPV4-Related disorders: From skeletal dysplasia to neuromuscular phenotype.Semantic proximity Read ↗

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