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Article

A novel homozygous COL11A2 deletion causes a C-terminal protein truncation with incomplete mRNA decay in a Turkish patient.

American journal of medical genetics. Part A - 1 Jan 2011

Kayserili Hülya, Wollnik Bernd, Güven Gamze, Emiroğlu Melike Ulubil, Başerer Nermin, Uyguner Z Oya

Abstract excerpt

Recessive mutations in COL11A2 (collagen, type XI, alpha 2), are responsible for otospondylomegaepiphyseal dysplasia (OSMED) and non-syndromic hearing loss while dominant mutations are associated with Stickler type III, isolated cleft palate, Robin sequence, non-ophthalmic Stickler syndrome, early onset osteoarthritis and autosomal dominant hearing loss. We describe here the clinical findings of two Turkish...

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Identifiers

PMID: 21204229
DOI: 10.1002/ajmg.a.33780

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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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A novel homozygous COL11A2 deletion causes a C-terminal protein truncation with incomplete mRNA decay in a Turkish patient.PMID 21204229Read ↗

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