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Article

Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course.

American journal of medical genetics. Part A - 1 Jul 2014

Grigelioniene Giedre, Geiberger Stefan, Horemuzova Eva, Moström Eva, Jäntti Nina, Neumeyer Lo, Åström Eva, Nordenskjöld Magnus, Nordgren Ann, Mäkitie Outi

Abstract excerpt

Autosomal dominant brachyolmia (Type 3, OMIM #113500) belongs to a group of skeletal dysplasias caused by mutations in the transient receptor potential cation channel, subfamily V, member 4 (TRPV4) gene, encoding a Ca++-permeable, non-selective cation channel. The disorder is characterized by disproportionate short stature with short trunk, scoliosis and platyspondyly. The phenotypic variability and long-term...

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Identifiers

PMID: 24677493
DOI: 10.1002/ajmg.a.36502

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.

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