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Article

Oculo-facio-cardio-dental syndrome in three succeeding generations: genotypic data and phenotypic features.

Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas - 1 Dec 2012

Lozić B, Ljubković J, Pandurić D Gabrić, Saltvig I, Kutsche K, Krželj V, Zemunik T

Abstract excerpt

Oculo-facio-cardio-dental (OFCD) syndrome is a rare X-linked disorder mainly manifesting in females. Patients show ocular, facial, cardiac, and dental abnormalities. OFCD syndrome is caused by heterozygous mutations in the BCOR gene, located in Xp11.4, encoding the BCL6 co-repressor. We report a Croatian family with four female members (grandmother, mother and monozygotic female twins) diagnosed with OFCD...

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Identifiers

PMID: 22983184
DOI: 10.1590/s0100-879x2012007500150
PMCID: PMC3854205

Genes

BCOR
BCL6

Variants

Provenance

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Oculo-facio-cardio-dental syndrome in three succeeding generations: genotypic data and phenotypic features.PMID 22983184Read ↗

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