相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Unique Presentation of Corneal Opacity in Peters Plus Syndrome: An Unusual Form of Peters Anomaly Showing Tissue Repair in Serial Analysis
Karlijn F. de Nie et al.
CORNEA (2016)
Impaired ADAMTS9 secretion: A potential mechanism for eye defects in Peters Plus Syndrome
Johanne Dubail et al.
SCIENTIFIC REPORTS (2016)
Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes
E. Weh et al.
CLINICAL GENETICS (2014)
A new approach to the classification of neonatal corneal opacities
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CURRENT OPINION IN OPHTHALMOLOGY (2012)
Atypical Peters plus syndrome with new associations
Nancy N. Hanna et al.
JOURNAL OF AAPOS (2010)
Mutation Analysis of B3GALTL in Peters Plus Syndrome
Linda M. Reis et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2008)
Peters plus syndrome is a new congenital disorder of glycosylation and involves defective O-glycosylation of thrombospondin type 1 repeats
Daniel Hess et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2008)
Peters plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase
Saskia A. J. Lesnik Oberstein et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
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