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Article

Compound genetic burden in oculo-facio-cardio-dental (OFCD) syndrome: surgical risk stratification with co-occurring BCOR and MYLK mutations.

Ophthalmic genetics - 1 Apr 2026

Kang Sujin, Perez Alejandro M, Smith Carson, Chang Ta Chen, Bademci Guney

Abstract excerpt

INTRODUCTION: Oculo-facio-cardio-dental (OFCD) syndrome is a rare X-linked dominant disorder caused by pathogenic BCOR variants and characterized by congenital cataracts, microcornea, and secondary glaucoma. Multilocus pathogenic variation (MPV), in which independent variants contribute to disease burden, can further complicate syndromic presentations and alter surgical planning. This case highlights the...

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Source

Identifiers

PMID: 41236190
DOI: 10.1080/13816810.2025.2582609

Genes

BCOR
MYLK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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