Autosomal Recessive Disorder Otospondylomegaepiphyseal Dysplasia Is Associated with Loss-of-Function Mutations in the COL11A2 Gene

Otospondylomegaepiphyseal dysplasia (OSMED) is an autosomal recessive skeletal dysplasia accompanied by severe hearing loss. The phenotype overlaps that of the autosomal dominant disorders—Stickler and Marshall syndromes—but can be distinguished by disproportionately short limbs, severe hearing loss...

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Main Authors: Melkoniemi, MiiaÂ, Brunner, Han G.Â, Manouvrier, SylvieÂ, Hennekam, RaoulÂ, Superti-Furga, AndreaÂ, Kääriäinen, HelenaÂ, Pauli, Richard M.Â, van Essen, TonÂ, Warman, Matthew L.Â, Bonaventure, JackyÂ, Miny, PeterÂ, Ala-Kokko, LeenaÂ
Format: Artigo
Sprog:Inglês
Udgivet: The American Society of Human Genetics 2000
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Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1288089/
https://ncbi.nlm.nih.gov/pubmed/10677296
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