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
Identifying the Molecular Drivers of Pathogenic Aldehyde Dehydrogenase Missense Mutations in Cancer and Non-Cancer Diseases.
Jessen-Howard D et al.
International Journal of Molecular Sciences, 2023
Annotation of 1350 Common Genetic Variants of the 19 ALDH Multigene Family from Global Human Genome Aggregation Database (gnomAD).
Chen CH et al.
Biomolecules, 2021
Genetics and functions of the retinoic acid pathway, with special emphasis on the eye.
Thompson B et al.
Human Genomics, 2019
Genetic architecture of retinoic-acid signaling-associated ocular developmental defects.
Nedelec B et al.
Human Genetics, 2019
Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature.
Lin S et al.
Bmc Medical Genetics, 2018
Genetic causes of optic nerve hypoplasia.
Chen CA et al.
Journal of Medical Genetics, 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
Single amino acid polymorphism in aldehyde dehydrogenase gene superfamily.
Priyadharshini Christy J et al.
Frontiers in Bioscience (landmark Edition), 2015
A homozygous mutation in a consanguineous family consolidates the role of ALDH1A3 in autosomal recessive microphthalmia.
Roos L et al.
Clinical Genetics, 2014
Novel splice-site and missense mutations in the ALDH1A3 gene underlying autosomal recessive anophthalmia/microphthalmia.
Semerci CN et al.
The British Journal of Ophthalmology, 2014
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
ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.
Fares-Taie L et al.
American Journal of Human Genetics, 2013