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Article

A rare genotype of biallelic mosaic variants in BCOR gene causing a bilateral ocular anterior segment dysgenesis and cataracts.

European journal of human genetics : EJHG - 1 Jan 2023

Mezad-Koursh Daphna, Rosenfeld Eldar, Bachar Zipori Anat, Zur Dinah, Elhanan Emil, Ben-Shachar Shay

Abstract excerpt

Oculofaciocardiodental (OFCD) syndrome is a rare X-linked dominant syndrome characterized by the involvement of the eyes, face, teeth, and heart with variable expressivity. The syndrome is caused by loss-of-function variants in the BCOR gene located on the X chromosome. OFCD affects only females with presumed embryonic lethality among males. We report a first case of a female with biallelic mosaic variants in...

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Identifiers

PMID: 36261622
DOI: 10.1038/s41431-022-01195-7
PMCID: PMC9822961

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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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