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

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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Main Authors: 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.
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Language:English
Published: The American Society of Human Genetics 2006
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Online Access:https://pmc.ncbi.nlm.nih.gov/articles/PMC1559553/
https://pubmed.ncbi.nlm.nih.gov/16909395
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https://pmc.ncbi.nlm.nih.gov/articles/PMC1559553/
https://pubmed.ncbi.nlm.nih.gov/16909395

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