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...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: The American Society of Human Genetics 2000
Soggetti:
Articles
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1288089/
https://ncbi.nlm.nih.gov/pubmed/10677296
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi