Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature

Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature

Abstract 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 mutation...

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Bibliographic Details
Main Authors: Siying Lin, Gaurav V. Harlalka, Abdul Hameed, Hadia Moattar Reham, Muhammad Yasin, Noor Muhammad, Saadullah Khan, Emma L. Baple, Andrew H. Crosby, Shamim Saleha
Format: Article
Language:English
Published: BMC 2018-09-01
Series:BMC Medical Genetics
Subjects:
Autosomal recessive anophthalmia and microphthalmia
ALDH1A3 gene
Mutations
Variants
Exome sequencing
Consanguineous families
Online Access:http://link.springer.com/article/10.1186/s12881-018-0678-6

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http://link.springer.com/article/10.1186/s12881-018-0678-6

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