Associated Papers
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
Genetic landscape of isolated pediatric cataracts: extreme heterogeneity and variable inheritance patterns within genes.
Reis LM et al.
Human Genetics, 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
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