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
Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature.
Lin S et al.
Bmc Medical Genetics, 2018
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 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
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