Associated Papers
Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects.
Anand D et al.
Human Mutation, 2018
Identification of NCAN as a candidate gene for developmental dyslexia.
Einarsdottir E et al.
Scientific Reports, 2017
28839234 (PubMed )
Supplement: 41598_2017_10175_MOESM4_ESM.xls › 3821-rare_exonic_variants
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix
FOXE3 mutations predispose to thoracic aortic aneurysms and dissections.
Kuang SQ et al.
The Journal of Clinical Investigation, 2016
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 115.81
Absence of NR2E1 mutations in patients with aniridia.
Corso-Díaz X et al.
Molecular Vision, 2012
Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies.
Iseri SU et al.
Human Mutation, 2009
Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts.
Semina EV et al.
Human Molecular Genetics, 2001
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