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
37373306 (PubMed )
Supplement: ijms-24-10157-s001.zip › aldh_base_cancer_otherdiseases_benign_supps.xlsx › aldh_base_cancer_otherdiseases_
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
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
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