Novel B3GALTL mutations in classic Peters Plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes

Peters Plus syndrome (PPS) is a rare autosomal-recessive disorder characterized by Peters anomaly of the eye, short stature, brachydactyly, dysmorphic facial features, developmental delay, and variable other systemic abnormalities. In this report we describe screening of 64 patients affected with PP...

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Detalhes bibliográficos
Principais autores: Weh, Eric, Reis, Linda M., Tyler, Rebecca C., Bick, David, Rhead, William J., Wallace, Stephanie, McGregor, Tracy L., Dills, Shelley K., Chao, Mei-Chyn, Murray, Jeffrey C., Semina, Elena V.
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4103962/
https://ncbi.nlm.nih.gov/pubmed/23889335
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.12241
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