Associated Papers
Detection Rate of Cataract-Related Gene Variants in Sporadic Childhood Cataract Patients in Southern China.
Luo Z et al.
American Journal of Ophthalmology, 2025
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM12_ESM.xlsx › Sheet1
Unilateral buphthalmos, corneal staphyloma and corneal fistula caused by pathogenic variant in the PITX3 gene: a case report.
Zhou L et al.
Bmc Ophthalmology, 2022
Molecular and Genetic Mechanism of Non-Syndromic Congenital Cataracts. Mutation Screening in Spanish Families.
Fernández-Alcalde C et al.
Genes, 2021
Genetic landscape of isolated pediatric cataracts: extreme heterogeneity and variable inheritance patterns within genes.
Reis LM et al.
Human Genetics, 2019
PITX3 mutations associated with autosomal dominant congenital cataract in the Chinese population.
Wu Z et al.
Molecular Medicine Reports, 2019
Identification of PITX3 mutations in individuals with various ocular developmental defects.
Zazo Seco C et al.
Ophthalmic Genetics, 2018
Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma.
Reis LM et al.
Birth Defects Research. Part C, Embryo Today : Reviews, 2015
Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics.
Verdin H et al.
Orphanet Journal of Rare Diseases, 2014
Novel recessive BFSP2 and PITX3 mutations: insights into mutational mechanisms from consanguineous populations.
Aldahmesh MA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2011
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