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UBE3B gene

Known as: UBE3B, UBIQUITIN-PROTEIN LIGASE E3B, ubiquitin protein ligase E3B 
National Institutes of Health

Papers overview

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2019
2019
Significance UBE3B is a ubiquitin ligase disrupted in severe neurodevelopmental diseases (NDDs). Mechanistic studies on the… 
Review
2019
Review
2019
Kaufman oculocerebrofacial syndrome is a rare autosomal recessive disorder caused by biallelic variants in UBE3B. Kaufman… 
2018
2018
The “blepharophimosis‐mental retardation” syndromes (BMRS) consist of a group of clinically and genetically heterogeneous… 
2016
2016
Recent genome-wide studies found that patients with hypotonia, developmental delay, intellectual disability, congenital anomalies… 
Review
2015
Review
2015
A pair of sisters was ascertained for multiple congenital defects, including marked craniofacial dysmorphisms with… 
Review
2014
Review
2014
Biallelic mutations of UBE3B have recently been shown to cause Kaufman oculocerebrofacial syndrome (also reported as… 
2013
2013
Background Kaufman oculocerebrofacial syndrome (KOS) is a developmental disorder characterised by reduced growth, microcephaly…