Associated Papers
Combined Single Gene Testing and Genome Sequencing as an Effective Diagnostic Approach for Anophthalmia and Microphthalmia Patients.
Basharat R et al.
Genes, 2023
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
Identification of Novel Variants in LTBP2 and PXDN Using Whole-Exome Sequencing in Developmental and Congenital Glaucoma.
Micheal S et al.
Plos One, 2016
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