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
Identification of mutations associated with congenital cataracts in nineteen Chinese families.
Sun HS et al.
Bmc Ophthalmology, 2025
Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.
Lenassi E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
31848469 (PubMed )
Supplement: 41436_2019_722_MOESM1_ESM.pdf
Biology of Inherited Cataracts and Opportunities for Treatment.
Shiels A et al.
Annual Review of Vision Science, 2019
Clinical and genetic characteristics of Chinese patients with familial or sporadic pediatric cataract.
Li J et al.
Orphanet Journal of Rare Diseases, 2018
The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity.
Sergouniotis PI et al.
Orphanet Journal of Rare Diseases, 2016
Personalized diagnosis and management of congenital cataract by next-generation sequencing.
Gillespie RL et al.
Ophthalmology, 2014
A novel p.G112E mutation in BFSP2 associated with autosomal dominant pulverulent cataract with sutural opacities.
Liu Q et al.
Current Eye Research, 2014
Molecular genetics of congenital nuclear cataract.
Deng H et al.
European Journal of Medical Genetics, 2014
A novel mutation in CRYAA is associated with autosomal dominant suture cataracts in a Chinese family.
Su D et al.
Molecular Vision, 2012
Functions of the intermediate filament cytoskeleton in the eye lens.
Song S et al.
The Journal of Clinical Investigation, 2009
A novel mutation in CRYBB2 responsible for inherited coronary cataract.
Lou D et al.
Eye (london, England), 2009
The E233del mutation in BFSP2 causes a progressive autosomal dominant congenital cataract in a Chinese family.
Cui X et al.
Molecular Vision, 2007
Clinical description and genome wide linkage study of Y-sutural cataract and myopia in a Chinese family.
Zhang Q et al.
Molecular Vision, 2004
Molecular characteristics of inherited congenital cataracts.
Huang B et al.
European Journal of Medical Genetics, 0
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