Associated Papers
Investigating the Clinical Characteristics and PITX3Mutations of a Large Chinese Family with Anterior Segment Mesenchymal Dysgenesis and Congenital Posterior Polar Cataract.
Dang H et al.
Journal of Ophthalmology, 2023
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
PITX3 mutations associated with autosomal dominant congenital cataract in the Chinese population.
Wu Z et al.
Molecular Medicine Reports, 2019
A novel mutation in the OAR domain of PITX3 associated with congenital posterior subcapsular cataract.
Fan Q et al.
Bmc Medical Genetics, 2019
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
Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma.
Reis LM et al.
Birth Defects Research. Part C, Embryo Today : Reviews, 2015
Human pituitary homeobox-3 gene in congenital cataract in a Chinese family.
Ye X et al.
International Journal of Clinical and Experimental Medicine, 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
The use of autozygosity mapping and next-generation sequencing in understanding anterior segment defects caused by an abnormal development of the lens.
Gillespie RL et al.
Human Heredity, 2014
A new locus in chromosome 2q37-qter is associated with posterior polar cataract.
Ouyang S et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2012
Absence of mutations in four genes encoding for congenital cataract and expressed in the human brain in Tunisian families with cataract and mental retardation.
Chograni M et al.
Bmc Ophthalmology, 2011
A novel 1-bp deletion in PITX3 causing congenital posterior polar cataract.
Berry V et al.
Molecular Vision, 2011
Absence of PITX3 mutation in a Tunisian family with congenital cataract and mental retardation.
Chograni M et al.
Molecular Vision, 2010
Functional analysis of human mutations in homeodomain transcription factor PITX3.
Sakazume S et al.
Bmc Molecular Biology, 2007
Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities.
Bidinost C et al.
Investigative Ophthalmology & Visual Science, 2006
Recurrent 17 bp duplication in PITX3 is primarily associated with posterior polar cataract (CPP4).
Berry V et al.
Journal of Medical Genetics, 2004