Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder

Achondrogenesis II-hypochondrogenesis and severe spondyloepiphyseal dysplasia congenita (SEDC) are lethal forms of dwarfism caused by dominant mutations in the type II collagen gene (COL2A1). To identify the underlying defect in seven cases with this group of conditions, we used the combined strateg...

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Main Authors: Mortier, G., Weis, M., Nuytinck, L., King, L., Wilkin, D., De Paepe, A., Lachman, R., Rimoin, D., Eyre, D., Cohn, D.
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2000
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Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734564/
https://ncbi.nlm.nih.gov/pubmed/10745044
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.37.4.263
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