Associated Papers
Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia.
Kesim Y et al.
European Journal of Human Genetics : Ejhg, 2023
ALDH1A3-related congenital microphthalmia-8 due to a novel frameshift variant.
Piryaei F et al.
European Journal of Medical Genetics, 2023
Clinical utility gene card for: Non-Syndromic Microphthalmia Including Next-Generation Sequencing-Based Approaches.
Richardson R et al.
European Journal of Human Genetics : Ejhg, 2017
A Novel Missense Mutation in the ALDH13 Gene Causes Anophthalmia in Two Unrelated Iranian Consanguineous Families.
Dehghani M et al.
International Journal of Molecular and Cellular Medicine, 2017
A missense mutation in ALDH1A3 causes isolated microphthalmia/anophthalmia in nine individuals from an inbred Muslim kindred.
Mory A et al.
European Journal of Human Genetics : Ejhg, 2014
ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm.
Yahyavi M et al.
Human Molecular Genetics, 2013
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