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_6.ZIP › case2-C › 3.________ › CA2275B________.____Exonic_Variants.xlsx › sheet1
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
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
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
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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