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
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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)
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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)