Novel mutations in the gamma-crystallin genes cause autosomal dominant congenital cataracts
โ Scribed by Santhiya, S T
- Book ID
- 125423207
- Publisher
- BMJ Publishing Group
- Year
- 2002
- Tongue
- English
- Weight
- 341 KB
- Volume
- 39
- Category
- Article
- ISSN
- 0022-2593
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Hereditary cataract is a phenotypically and genetically heterogeneous lens disease that is responsible for a significant proportion of the visual impairment and blindness that occurs in children. In a five-generation Chinese family with autosomal dominant inherited congenital cataract, clinical exam
Congenital cataracts (CCs) are clinically and genetically heterogeneous. Mutations in the same gene may lead to CCs differing in inheritance, morphology and severity. Loci for autosomal dominant posterior polar CC and total CC have both been mapped to the chromosomal 1p36 region harboring the EPHA2