Krause-Kivlin syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Peters plus syndrome (MIM #261540 PTRPLS), characterized by defects in eye development, prominent forehead, hypertelorism, short stature, and brachydactyly, is caused by mutations in the β3-glucosyltransferase (B3GLCT) gene.
|
31600785 |
2019 |
Krause-Kivlin syndrome
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.
|
29096039 |
2018 |
Krause-Kivlin syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Functional characterization of zebrafish orthologs of the human Beta 3-Glucosyltransferase B3GLCT gene mutated in Peters Plus Syndrome.
|
28926587 |
2017 |
Krause-Kivlin syndrome
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
Krause-Kivlin syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Unique Presentation of Corneal Opacity in Peters Plus Syndrome: An Unusual Form of Peters Anomaly Showing Tissue Repair in Serial Analysis.
|
26684045 |
2016 |
Krause-Kivlin syndrome
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes.
|
23889335 |
2014 |
Krause-Kivlin syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes.
|
23889335 |
2014 |
Krause-Kivlin syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes.
|
23889335 |
2014 |
Krause-Kivlin syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
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.
|
23161355 |
2013 |
Krause-Kivlin syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
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.
|
23161355 |
2013 |
Krause-Kivlin syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
First functional analysis of a novel splicing mutation in the B3GALTL gene by an ex vivo approach in Tunisian patients with typical Peters plus syndrome.
|
23954224 |
2013 |
Krause-Kivlin syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Absence of NR2E1 mutations in patients with aniridia.
|
23213277 |
2012 |
Krause-Kivlin syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In this study, we screened the B3GALTL gene in two unrelated patients with typical Peters plus syndrome.
|
22759511 |
2012 |
Krause-Kivlin syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The latter was present in a male diagnosed with Peters' anomaly who subsequently was found to have a known causative mutation for Peters' plus syndrome in B3GALTL (c.660+1G>A).
|
23213277 |
2012 |
Krause-Kivlin syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the B3GALTL gene encoding beta 1,3-glucosyltransferase have been found in virtually all patients with typical Peters Plus syndrome.
|
20584037 |
2010 |
Krause-Kivlin syndrome
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Novel B3GALTL mutation in Peters-plus Syndrome.
|
19796186 |
2009 |
Krause-Kivlin syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Novel B3GALTL mutation in Peters-plus Syndrome.
|
19796186 |
2009 |
Krause-Kivlin syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Peters Plus syndrome is a new congenital disorder of glycosylation and involves defective Omicron-glycosylation of thrombospondin type 1 repeats.
|
18199743 |
2008 |
Krause-Kivlin syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
These data confirm an important role for B3GALTL in causing typical Peters Plus syndrome, and suggest that this gene may not be implicated in syndromic cases that involve Peters anomaly but lack other classic features of this complex condition.
|
18798333 |
2008 |
Krause-Kivlin syndrome
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
These data confirm an important role for B3GALTL in causing typical Peters Plus syndrome, and suggest that this gene may not be implicated in syndromic cases that involve Peters anomaly but lack other classic features of this complex condition.
|
18798333 |
2008 |
Krause-Kivlin syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
These data confirm an important role for B3GALTL in causing typical Peters Plus syndrome, and suggest that this gene may not be implicated in syndromic cases that involve Peters anomaly but lack other classic features of this complex condition.
|
18798333 |
2008 |
Krause-Kivlin syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase.
|
16909395 |
2006 |
Krause-Kivlin syndrome
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase.
|
16909395 |
2006 |
Krause-Kivlin syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase.
|
16909395 |
2006 |
Krause-Kivlin syndrome
|
0.700 |
Biomarker
|
disease |
CTD_human |
Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase.
|
16909395 |
2006 |