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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Huvudupphovsmän: 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.
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2008
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Article
Länkar: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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