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B3GLCT gene
Known as:
UDP-GAL:BETA-GlcNAc BETA-1,3-GALACTOSYLTRANSFERASE-LIKE
, BETA-3-GLUCOSYLTRANSFERASE
, B3GLCT
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National Institutes of Health
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
Corrigendum to: ADAMTS9 and ADAMTS20 are differentially affected by loss of B3GLCT in mouse model of Peters plus syndrome.
B. Holdener
,
C. Percival
,
+15 authors
R. Haltiwanger
Human Molecular Genetics
2020
Corpus ID: 219621622
Corrigendum to: ADAMTS9 and ADAMTS20 are differentially affected by loss of B3GLCT in mouse model of Peters plus syndrome…
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2018
2018
Prenatal detection of Peters plus-like syndrome
M. T. Canda
,
Latife Doğanay Çağlayan
,
A. B. Demir
,
N. Demir
Journal of Turkish Society of Obstetric and…
2018
Corpus ID: 59303888
Peters plus syndrome is a rare congenital disorder that includes ocular anterior segment defects of the classic Peter’s anomaly…
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2014
2014
Network Topology and Functional Analysis of Genes in Ocular Disorders
U. Subramanian
,
R. Sundaram
2014
Corpus ID: 75532455
Most common genetic disorders have a complex inheritance and they are results of mutations in many genes, each gene contribute…
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2013
2013
RAD51 gene is associated with advanced age-related macular degeneration in Chinese population.
Jie Zhou
,
Dan Wang
,
+13 authors
Z. Su
Clinical Biochemistry
2013
Corpus ID: 11734994
2012
2012
Absence of NR2E1 mutations in patients with aniridia
Ximena Corso-Díaz
,
A. Borrie
,
+10 authors
E. Simpson
Molecular Vision
2012
Corpus ID: 10505498
Purpose Nuclear receptor 2E1 (NR2E1) is a transcription factor with many roles during eye development and thus may be responsible…
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2012
2012
Cleft Lip in Oculodentodigital Dysplasia Suggests Novel Roles for Connexin43
K. Amano
,
M. Ishiguchi
,
+5 authors
M. Kogo
Journal of dentistry research
2012
Corpus ID: 27606144
Oculodentodigital Dysplasia (ODDD) is a rare syndrome involving anomalies in eye, tooth, and digit formation, caused by mutations…
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2011
2011
Vertebral defects in patients with Peters plus syndrome and mutations in B3GALTL
F. Faletra
,
E. Athanasakis
,
F. Minen
,
Federico Fornasier
,
F. Marchetti
,
P. Gasparini
Ophthalmic Genetics
2011
Corpus ID: 1249053
Peters plus syndrome (PPS-MIM 261540) is a rare genetic disorder characterized by anterior chamber eye anomalies…
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2008
2008
Peters plus syndrome
S. Kapoor
,
S. Mukherjee
,
R. Arora
,
D. Shroff
Indian Journal of Pediatrics
2008
Corpus ID: 207384816
A 10-year-old boy, issue of unrelated parents presented with visual impairment, short stature and mental retardation. The…
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