Significant ocular findings are a feature of heritable bone dysplasias resulting from defects in type II collagen

BACKGROUND/AIMS: The type II collagenopathies are a phenotypically diverse group of genetic skeletal disorders caused by a mutation in the gene coding for type II collagen. Reports published before the causative mutations were discovered suggest heritable bone dysplasias with skeletal malformations...

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Detalles Bibliográficos
Main Authors: Meredith, Sarah P, Richards, Allan J, Bearcroft, Philip, Pouson, Arabella V, Snead, Martin P
Formato: Artigo
Idioma:Inglês
Publicado: BMJ Group 2007
Assuntos:
Scientific Report
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC1954906/
https://ncbi.nlm.nih.gov/pubmed/17347327
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bjo.2006.112482
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