Clinical Differentiation of Recessive Congenital Hereditary Endothelial Dystrophy and Dominant Hereditary Endothelial Dystrophy
โ Scribed by Judisch, G. Frank; Maumenee, Irene H.
- Book ID
- 126987955
- Publisher
- Elsevier Science
- Year
- 1978
- Tongue
- English
- Weight
- 961 KB
- Volume
- 85
- Category
- Article
- ISSN
- 0002-9394
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Autosomal recessive congenital hereditary endothelial dystrophy (CHED2) is a severe and rare corneal disorder that presents at birth or shortly thereafter, characterized by corneal opacification and nystagmus. Recently the gene for CHED2 was identified and seven different mutations in the SLC4A11 ge
Congenital hereditary endothelial dystrophy (CHED) is a heritable, bilateral corneal dystrophy characterized by corneal opacification and nystagmus. We describe seven different mutations in the SLC4A11 gene in ten families with autosomal recessive CHED. Mutations in SLC4A11, which encodes a membrane