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Article

Identification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill-Marchesani syndrome.

European journal of human genetics : EJHG - 1 Sept 2015

Steinkellner Hannes, Etzler Julia, Gogoll Laura, Neesen Jürgen, Stifter Eva, Brandau Oliver, Laccone Franco

Abstract excerpt

Weill-Marchesani syndrome is a rare disorder of the connective tissue. Functional variants in ADAMTS10 are associated with Weill-Marchesani syndrome-1. We identified a homozygous missense mutation, c.41T>A, of the ADAMTS10 gene in a 19-year-old female with typical symptoms of WMS1: proportionate short stature, brachydactyly, joint stiffness, and microspherophakia. The ADAMTS10 missense mutation was analysed in...

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Identifiers

PMID: 25469541
DOI: 10.1038/ejhg.2014.264
PMCID: PMC4538198

Genes

ADAMTS10

Variants

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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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