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Article

Non-syndromic anophthalmia/microphthalmia can be caused by a PORCN variant inherited in X-linked recessive manner.

American journal of medical genetics. Part A - 1 Jan 2021

Wawrocka Anna, Walczak-Sztulpa Joanna, Pawlak Marta, Gotz-Wieckowska Anna, Krawczynski Maciej R

Abstract excerpt

Anophthalmia and microphthalmia (A/M) represent severe developmental ocular malformations, corresponding, respectively, to absent eyeball or reduced size of the eye. Both anophthalmia and microphthalmia may occur in isolation or as part of a syndrome. Genetic heterogeneity has been demonstrated, and many genes have been reported to be associated with A/M. The advances in high-throughput sequencing have proven...

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PMID: 33111437
DOI: 10.1002/ajmg.a.61938

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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