Associated Papers
Detection Rate of Cataract-Related Gene Variants in Sporadic Childhood Cataract Patients in Southern China.
Luo Z et al.
American Journal of Ophthalmology, 2025
Multimorbidity Through the Lens of the Eye: Pathogenic Variants for Multiple Systemic Disorders Found in an Autosomal Dominant Congenital Cataract Cohort.
Berry V et al.
Genes, 2025
Improving the Yield of Genetic Diagnosis through Additional Genetic Panel Testing in Hereditary Ophthalmic Diseases.
Gwack J et al.
Current Issues in Molecular Biology, 2024
Congenital coralliform cataract is the predominant consequence of a recurrent mutation in the CRYGD gene.
Wang KJ et al.
Orphanet Journal of Rare Diseases, 2023
The genetic landscape of crystallins in congenital cataract.
Berry V et al.
Orphanet Journal of Rare Diseases, 2020
Increased hydrophobicity of CRYGD p.(Ala159ProfsTer9): Suspected cause of congenital cataracts in a large Chinese family.
Lin M et al.
Molecular Genetics & Genomic Medicine, 2020
[A novel pathogenic mutation of CRYGD gene in a congenital cataract family].
Gao M et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2016
Novel mutations in CRYGD are associated with congenital cataracts in Chinese families.
Yang G et al.
Scientific Reports, 2016
A Novel Insertion Variant of CRYGD Is Associated with Congenital Nuclear Cataract in a Chinese Family.
Zhuang X et al.
Plos One, 2015
A nonsense mutation of γD-crystallin associated with congenital nuclear and posterior polar cataract in a Chinese family.
Zhai Y et al.
International Journal of Medical Sciences, 2014
sHSP in the eye lens: crystallin mutations, cataract and proteostasis.
Clark AR et al.
The International Journal of Biochemistry & Cell Biology, 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
A recurrent mutation in CRYGD is associated with autosomal dominant congenital coralliform cataract in two unrelated Chinese families.
Yang G et al.
Molecular Vision, 2011
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 human CRYGD mutation in a juvenile autosomal dominant cataract.
Roshan M et al.
Molecular Vision, 2010
Genetics of crystallins: cataract and beyond.
Graw J
Experimental Eye Research, 2009
Crystallin gene mutations in Indian families with inherited pediatric cataract.
Devi RR et al.
Molecular Vision, 2008
Novel MAF mutation in a family with congenital cataract-microcornea syndrome.
Hansen L et al.
Molecular Vision, 2007
Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8.
Hansen L et al.
Investigative Ophthalmology & Visual Science, 2007