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

doi:10.1002/ajmg.a.61938

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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...

Topics

Acyltransferases
Adult
Anophthalmos
Child, Preschool
Exome
Female
Focal Dermal Hypoplasia
Genes, Recessive
Genes, X-Linked
Genetic Heterogeneity
Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Infant

Male

Membrane Proteins

Microphthalmos

Mutation

Pedigree

Source

Open in PubMed

Identifiers

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

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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