Associated Papers
Syndromic or non-syndromic congenital ichthyosis? A case report of two brothers with ichthyosis but microphthalmia and blindness in only one brother.
Aubry RL et al.
Sage Open Medical Case Reports, 2024
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
Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing.
Balci TB et al.
Clinical Genetics, 2017
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