Condition: Krause-Kivlin syndrome


rs80338851 in B3GLCT gene and Krause-Kivlin syndrome PMID 18199743 2008 Peters Plus syndrome is a new congenital disorder of glycosylation and involves defective Omicron-glycosylation of thrombospondin type 1 repeats.

PMID 23161355 2013 Hydrocephalus, agenesis of the corpus callosum, and cleft lip/palate represent frequent associations in fetuses with Peters' plus syndrome and B3GALTL mutations. Fetal PPS phenotypes, expanded by Dandy Walker cyst and encephalocele.

PMID 16909395 2006 Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase.

PMID 18798333 2008 Mutation analysis of B3GALTL in Peters Plus syndrome.

PMID 23889335 2014 Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes.

PMID 26684045 2016 Unique Presentation of Corneal Opacity in Peters Plus Syndrome: An Unusual Form of Peters Anomaly Showing Tissue Repair in Serial Analysis.

PMID 19796186 2009 Novel B3GALTL mutation in Peters-plus Syndrome.

PMID 23213277 2012 Absence of NR2E1 mutations in patients with aniridia.