Mutation Analysis of B3GALTL in Peters Plus Syndrome

Peters Plus syndrome comprises ocular anterior segment dysgenesis (most commonly Peters anomaly), short stature, hand anomalies, distinctive facial features, and often other additional defects and is inherited in an autosomal-recessive pattern. Mutations in the β1,3-glucosyltransferase gene (B3GALTL...

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Main Authors: Reis, Linda M., Tyler, Rebecca C., Abdul-Rahman, Omar, Trapane, Pamela, Wallerstein, Robert, Broome, Diane, Hoffman, Jodi, Khan, Aneal, Paradiso, Christina, Ron, Nitin, Bergner, Amanda, Semina, Elena V.
Formato: Artigo
Idioma:Inglês
Publicado: 2008
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC2755183/
https://ncbi.nlm.nih.gov/pubmed/18798333
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.32498
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