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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...
Gorde:
Egile Nagusiak: | , , , , , , , |
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Formatua: | Artigo |
Hizkuntza: | Inglês |
Argitaratua: |
The American Society of Human Genetics
2006
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Gaiak: | |
Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1559553/ https://ncbi.nlm.nih.gov/pubmed/16909395 |
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