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Article

Clinical and genetic characteristics of Chinese patients with familial or sporadic pediatric cataract.

Orphanet journal of rare diseases - 18 Jun 2018

Li Jingyan, Leng Yunji, Han Shirui, Yan Lulu, Lu Chaoxia, Luo Yang, Zhang Xue, Cao Lihua

Abstract excerpt

BACKGROUND: Pediatric cataract is a clinically and genetically heterogeneous disease which is a significant cause of lifelong visual impairment and treatable blindness. Our study aims to investigate the genotype spectrum in a group of Chinese patients with pediatric cataract. METHODS: We enrolled 39 families with pediatric cataract from October 2015 to April 2016. DNA samples of the probands were analyzed by...

Topics

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Asian People
Cataract
Crystallins
DNA Mutational Analysis
High-Throughput Nucleotide Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Infant, Newborn

Mutation, Missense

Source

Open in PubMed Open full text

Identifiers

PMID: 29914532
DOI: 10.1186/s13023-018-0828-0
PMCID: PMC6006596

Genes

BCOR
BFSP2
CRYAA
CRYBA1
CRYBA4
CRYBB1
CRYGC
CRYGD
FYCO1
GCNT2
IARS2
MAF
MIP
NHS
PAX6

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