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Article

[Metatropic dysplasia in a girl with c.1811_1812delinsAT mutation in exon 11 of the TRPV4 gene not previously reported].

Archivos argentinos de pediatria - 1 Jan 2015

Cammarata-Scalisi Francisco, Matysiak-Scholze Uta, Heinze Jessica, Barrera Albaro, Lacruz-Rengel María Angelina, Bracho Ana, Guerrero Yudith

Abstract excerpt

Metatropic dysplasia is a skeletal disorder with clinical heterogeneity, characterized by craniofacial dysmorphy including frontal bossing and midface hypoplasia, short trunk,progressive kyphoscoliosis and shortened limbs. The TRPV4 gene is located on 12q24.11, coding a cation channel with nonsel...

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Source

Identifiers

PMID: 25622169
DOI: 10.5546/aap.2015.e10

Genes

TRPV4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25622169-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

Related research

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[Metatropic dysplasia in a girl with c.1811_1812delinsAT mutation in exon 11 of the TRPV4 gene not previously reported].PMID 25622169Read ↗

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

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

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

Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia.Semantic proximity Read ↗

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

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