Associated Papers
Multiplexed assays of human disease-relevant mutations reveal UTR dinucleotide composition as a major determinant of RNA stability.
Su JY et al.
Elife, 2025
39964837 (PubMed )
Supplement: elife-97682-supp1.xlsx › Sup_T2_metaTable
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
Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia.
Plaisancié J 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
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
Select a paper to view details