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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
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
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2000
Assuntos:
Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1288089/
https://ncbi.nlm.nih.gov/pubmed/10677296
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados