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
Whole exome sequencing: Uncovering causal genetic variants for ocular diseases.
Gupta S et al.
Experimental Eye Research, 2017
Genetic analysis of consanguineous families presenting with congenital ocular defects.
Ullah E et al.
Experimental Eye Research, 2016
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