Associated Papers
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
36619910 (PubMed )
Supplement: Data_Sheet_3.ZIP › case-C › 3.________ › CA2245B________.__________________________________.xlsx › sheet1
Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders.
Reis LM et al.
Human Molecular Genetics, 2021
34046667 (PubMed )
Supplement: supplemental_files_revised_ddab142.pdf
Novel mutations identified in Chinese families with autosomal dominant congenital cataracts by targeted next-generation sequencing.
Li S et al.
Bmc Medical Genetics, 2019
31842807 (PubMed )
Supplement: 12881_2019_933_MOESM2_ESM.xlsx › ___1
Genetic investigation of ocular developmental genes in 52 patients with anophthalmia/microphthalmia.
Vidya NG et al.
Ophthalmic Genetics, 2018
Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations.
Jimenez NL et al.
Bmc Medical Genetics, 2011
FOXE3 plays a significant role in autosomal recessive microphthalmia.
Reis LM et al.
American Journal of Medical Genetics. Part A, 2010
Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies.
Iseri SU et al.
Human Mutation, 2009
Lack of FOXE3 coding mutation in a case of congenital aphakia.
Sano Y et al.
Ophthalmic Genetics, 0
Association of FOXE3-p.Ala170Ala and PITX3-p.Ile95Ile Polymorphisms with Congenital Cataract and Microphthalmia.
Vidya NG et al.
Journal of Ophthalmic & Vision Research, 0
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