13 research outputs found
Novel compound heterozygous mutations of ALDH1A3 contribute to anophthalmia in a non-consanguineous Chinese family
Full text linkWhat’s retinoic acid got to do with it? Retinoic acid regulation of the neural crest in craniofacial and ocular development
Full text linkPeer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/151310/1/dvg23308.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/151310/2/dvg23308_am.pd
Is the modification of the 13q32.1 regulatory landscape the cause of congenital microcoria?
No full textAbnormal respiratory cilia in non-syndromic Leber congenital amaurosis with CEP290 mutations
No full textPrenatal diagnosis and implications of microphthalmia and anophthalmia with a review of current ultrasound guidelines: two case reports
No full textNovel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature.
No full textAutosomal recessive anophthalmia and microphthalmia are rare developmental eye defects occurring during early fetal development. Syndromic and non-syndromic forms of anophthalmia and microphthalmia demonstrate extensive genetic and allelic heterogeneity. To date, disease mutations have been identified in 29 causative genes associated with anophthalmia and microphthalmia, with autosomal dominant, autosomal recessive and X-linked inheritance patterns described. Biallelic ALDH1A3 gene variants are the leading genetic causes of autosomal recessive anophthalmia and microphthalmia in countries with frequent parental consanguinity.This article is freely available online via Open Access
