Peters Plus Syndrome Is Caused by Mutations in B3GALTL, a Putative Glycosyltransferase

Peters Plus syndrome is an autosomal recessive disorder characterized by anterior eye-chamber abnormalities, disproportionate short stature, and developmental delay. After detection of a microdeletion by array-based comparative genomic hybridization, we identified biallelic truncating mutations in t...

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Bibliografski detalji
Glavni autori: Lesnik Oberstein, Saskia A. J., Kriek, Marjolein, White, Stefan J., Kalf, Margot E., Szuhai, Karoly, den Dunnen, Johan T., Breuning, Martijn H., Hennekam, Raoul C. M.
Format: Artigo
Jezik:Inglês
Izdano: The American Society of Human Genetics 2006
Teme:
Report
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1559553/
https://ncbi.nlm.nih.gov/pubmed/16909395
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