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Article

Novel heterozygous variants in PXDN cause different anterior segment dysgenesis phenotypes in monozygotic twins.

Ophthalmic genetics - 1 Oct 2021

Zhu Angela Y, Costain Gregory, Cytrynbaum Cheryl, Weksberg Rosanna, Cohn Ronald D, Ali Asim

Abstract excerpt

BACKGROUND: Since bi-allelic variants in the PXDN gene were first discovered in 2011 to be associated with anterior segment dysgenesis, a spectrum of ophthalmologic and systemic clinical manifestations has been described. This manuscript reports two distinct clinical phenotypes in monozygotic twin sisters, including the previously unreported ocular manifestation of bilateral primary aphakia, associated with novel...

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PMID: 33985410
DOI: 10.1080/13816810.2021.1925929

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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