Associated Papers
Genetic landscape of isolated pediatric cataracts: extreme heterogeneity and variable inheritance patterns within genes.
Reis LM et al.
Human Genetics, 2019
A novel missense mutation in HSF4 causes autosomal-dominant congenital lamellar cataract in a British family.
Berry V et al.
Eye (london, England), 2018
Functional analysis of HSF4 mutations found in patients with autosomal recessive congenital cataracts.
Merath K et al.
Investigative Ophthalmology & Visual Science, 2013
[Gene mapping and mutation detection in a family with congenital anterior polar cataract].
Zhang L et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2011
A novel HSF4 gene mutation (p.R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan.
Sajjad N et al.
Bmc Medical Genetics, 2008
[Study of genetic mutation locus in a family with congenital aniridia].
Cong RC et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2006
Novel HSF4 mutation causes congenital total white cataract in a Chinese family.
Ke T et al.
American Journal of Ophthalmology, 2006
Locus heterogeneity in autosomal recessive congenital cataracts: linkage to 9q and germline HSF4 mutations.
Forshew T et al.
Human Genetics, 2005
[The blood galactokinase activity in Chinese with reference to congenital cataract].
Xu GT
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 1989
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