Associated Papers
Genetic architecture of congenital cataracts: correlation of pathogenic variants with morphology and clinical outcomes.
Guo D et al.
Progress in Retinal and Eye Research, 2025
A novel CRYBB2 mutation causes autosomal dominant cataract: A report from a Chinese family.
Xu LJ et al.
European Journal of Ophthalmology, 2021
Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.
Green DJ et al.
Genes, 2020
32050448 (PubMed )
Supplement: genes-11-00179-s001.zip › Supplementary_File_3.xlsx › gnomAD_overlap_autosomal
A Novel CRYBB2 Stopgain Mutation Causing Congenital Autosomal Dominant Cataract in a Chinese Family.
Zhou Y et al.
Journal of Ophthalmology, 2016
Molecular genetics of congenital nuclear cataract.
Deng H et al.
European Journal of Medical Genetics, 2014
The importance of the last strand at the C-terminus in βB2-crystallin stability and assembly.
Zhang K et al.
Biochimica Et Biophysica Acta, 2014
A missense mutation in CRYBB2 leads to progressive congenital membranous cataract by impacting the solubility and function of βB2-crystallin.
Chen W et al.
Plos One, 2013
Molecular and structural analysis of genetic variations in congenital cataract.
Kumar M et al.
Molecular Vision, 2013
Identification of a novel CRYBB2 missense mutation causing congenital autosomal dominant cataract.
Weisschuh N et al.
Molecular Vision, 2012
Characterization of a novel mutation in the CRYBB2 gene associated with autosomal dominant congenital posterior subcapsular cataract in a Chinese family.
Yao K et al.
Molecular Vision, 2011
Mutation analysis of congenital cataract in a Basotho family identified a new missense allele in CRYBB2.
Mothobi ME et al.
Molecular Vision, 2009
A novel CRYBB2 missense mutation causing congenital autosomal dominant cataract in an Italian family.
Faletra F et al.
Ophthalmic Genetics, 0
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