Article
Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature.
BMC medical genetics - 10 Sept 2018
Lin Siying, Harlalka Gaurav V, Hameed Abdul, Reham Hadia Moattar, Yasin Muhammad, Muhammad Noor, Khan Saadullah, Baple Emma L, Crosby Andrew H, Saleha Shamim
Abstract excerpt
BACKGROUND: Autosomal recessive anophthalmia and microphthalmia are rare developmental eye defects occurring during early fetal development. Syndromic and non-syndromic forms of anophthalmia and microphthalmia demonstrate extensive genetic and allelic heterogeneity. To date, disease mutations have been identified in 29 causative genes associated with anophthalmia and microphthalmia, with autosomal dominant,...
Topics
- Aldehyde Oxidoreductases
- Anophthalmos
- Consanguinity
- Exome
- Exons
- Female
- Genes, Recessive
- Humans
- Male
- Microphthalmos
- Mutation