Associated Papers
Novel heterozygous variants in PXDN cause different anterior segment dysgenesis phenotypes in monozygotic twins.
Zhu AY et al.
Ophthalmic Genetics, 2021
Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis.
Zazo-Seco C et al.
Journal of Human Genetics, 2020
Two Pathogenic Gene Mutations Identified Associating with Congenital Cataract and Iris Coloboma Respectively in a Chinese Family.
Li B et al.
Journal of Ophthalmology, 2020
32148946 (PubMed )
Supplement: 7054315.f1.pdf
Identification of Novel Variants in LTBP2 and PXDN Using Whole-Exome Sequencing in Developmental and Congenital Glaucoma.
Micheal S et al.
Plos One, 2016
Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis.
Choi A et al.
European Journal of Human Genetics : Ejhg, 2015
Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma.
Khan K et al.
American Journal of Human Genetics, 2011
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