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
Case Report: A family of congenital cataract caused by a novel mutation in the CRYGC gene c.52G>A.
Ma S et al.
Frontiers in Medicine, 2025
Novel CRYGC Mutation in Conserved Ultraviolet-Protective Tryptophan (p.Trp131Arg) Is Linked to Autosomal Dominant Congenital Cataract.
Delas F et al.
International Journal of Molecular Sciences, 2023
The Y46D Mutation Destabilizes Dense Packing of the Second Greek Key Pair of Human γC-Crystallin Causing Congenital Nuclear Cataracts.
Vendra VPR et al.
Biochemistry, 2023
A Novel Mutation in CRYGC Mutation Associated with Autosomal Dominant Congenital Cataracts and Microcornea.
Zhou Z et al.
Ophthalmology Science, 2022
Case Report: A de novo Variant of CRYGC Gene Associated With Congenital Cataract and Microphthalmia.
Peng Y et al.
Frontiers in Genetics, 2022
Novel mutations in CRYGC are associated with congenital cataracts in Chinese families.
Zhong Z et al.
Scientific Reports, 2017
Analysis of protein-coding genetic variation in 60,706 humans.
Lek M et al.
Nature, 2016
Molecular genetics of congenital nuclear cataract.
Deng H et al.
European Journal of Medical Genetics, 2014
A CRYGC gene mutation associated with autosomal dominant pulverulent cataract.
González-Huerta LM et al.
Gene, 2013
A novel mutation impairing the tertiary structure and stability of γC-crystallin (CRYGC) leads to cataract formation in humans and zebrafish lens.
Li XQ et al.
Human Mutation, 2012
A nonsense mutation of CRYGC associated with autosomal dominant congenital nuclear cataracts and microcornea in a Chinese pedigree.
Guo Y et al.
Molecular Vision, 2012
Mutation screening and genotype phenotype correlation of α-crystallin, γ-crystallin and GJA8 gene in congenital cataract.
Kumar M et al.
Molecular Vision, 2011
A novel nonsense mutation in CRYGC is associated with autosomal dominant congenital nuclear cataracts and microcornea.
Zhang L et al.
Molecular Vision, 2009
A nonsense mutation in CRYGC associated with autosomal dominant congenital nuclear cataract in a Chinese family.
Yao K et al.
Molecular Vision, 2008
Crystallin gene mutations in Indian families with inherited pediatric cataract.
Devi RR et al.
Molecular Vision, 2008
A family with autosomal dominant primary congenital cataract associated with a CRYGC mutation: evidence of clinical heterogeneity.
Gonzalez-Huerta LM et al.
Molecular Vision, 2007
Congenital hereditary cataracts.
Graw J
The International Journal of Developmental Biology, 2004
Novel mutations in the gamma-crystallin genes cause autosomal dominant congenital cataracts.
Santhiya ST et al.
Journal of Medical Genetics, 2002
[GENETIC COUNSELING IN HEREDITARY CONGENITAL CATARACT].
PECCININI D
Arquivos Brasileiros De Oftalmologia, 1964
The genetic and molecular basis of congenital cataract.
Santana A et al.
Arquivos Brasileiros De Oftalmologia, 0