Associated Papers
Variants in PAX6, PITX3 and HSF4 causing autosomal dominant congenital cataracts.
Berry V et al.
Eye (london, England), 2022
Congenital Cataract and Its Genetics: The Era of Next-Generation Sequencing
Taylan Şekeroğlu H et al.
Turkish Journal of Ophthalmology, 2021
Structural analysis of missense mutations occurring in the DNA-binding domain of HSF4 associated with congenital cataracts.
Xiao Z et al.
Journal of Structural Biology: X, 2020
Genetic landscape of isolated pediatric cataracts: extreme heterogeneity and variable inheritance patterns within genes.
Reis LM et al.
Human Genetics, 2019
Mutation screening of crystallin genes in Chinese families with congenital cataracts.
Zhuang J et al.
Molecular Vision, 2019
Novel mutations in HSF4 cause congenital cataracts in Chinese families.
Cao Z et al.
Bmc Medical Genetics, 2018
A novel missense mutation in HSF4 causes autosomal-dominant congenital lamellar cataract in a British family.
Berry V et al.
Eye (london, England), 2018
Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects.
Anand D et al.
Human Mutation, 2018
A novel homozygous mutation in HSF4 causing autosomal recessive congenital cataract.
Behnam M et al.
Journal of Human Genetics, 2016
HSF4 mutation p.Arg116His found in age-related cataracts and in normal populations produces childhood lamellar cataract in transgenic mice.
Jing Z et al.
Human Mutation, 2014
Functional analysis of HSF4 mutations found in patients with autosomal recessive congenital cataracts.
Merath K et al.
Investigative Ophthalmology & Visual Science, 2013
Proteomic analysis of SRA01/04 transfected with wild-type and mutant HSF4b identified from a Chinese congenital cataract family.
Miao A et al.
Molecular Vision, 2012
Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract.
Hansen L et al.
Investigative Ophthalmology & Visual Science, 2009
[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
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