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Article

8q21.11 microdeletion in two patients with syndromic peters anomaly.

American journal of medical genetics. Part A - 1 Sept 2016

Happ Hannah, Schilter Kala F, Weh Eric, Reis Linda M, Semina Elena V

Abstract excerpt

Peters anomaly is a form of anterior segment dysgenesis characterized by central ocular opacity and corneo-lenticular adhesions. Isolated and syndromic Peters anomaly can be observed and demonstrate significant genetic heterogeneity. We report the identification of overlapping 8q21.11 deletions in two patients with syndromic Peters anomaly via whole exome sequencing and chromosomal microarray analyses....

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Topics

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Share to Anterior Eye Segment
Share to Chromosome Deletion
Share to Chromosomes, Human, Pair 8

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 27378168
DOI: 10.1002/ajmg.a.37840
PMCID: PMC5119633

Genes

PEX2
ZFHX4

Provenance

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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