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Article

COL11A2 mutation associated with autosomal recessive Weissenbacher-Zweymuller syndrome: molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED).

American journal of medical genetics. Part A - 1 Jan 2005

Harel Tamar, Rabinowitz Ronen, Hendler Netta, Galil Aharon, Flusser Hagit, Chemke Juan, Gradstein Libe, Lifshitz Tova, Ofir Rivka, Elbedour Khalil, Birk Ohad S

Abstract excerpt

Autosomal recessive Weissenbacher-Zweymuller syndrome (WZS) is a skeletal dysplasia characterized by rhizomelic dwarfism and severe hearing loss. Mutations in the COL11A2 gene have been implicated in causing the autosomal dominant form of this syndrome as well as non-ocular Stickler syndrome and the autosomal recessive syndrome otospondylomegaepiphyseal dysplasia (OSMED). In a consanguineous Bedouin tribe living...

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PMID: 15558753
DOI: 10.1002/ajmg.a.30371

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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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COL11A2 mutation associated with autosomal recessive Weissenbacher-Zweymuller syndrome: molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED).PMID 15558753Read ↗

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