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

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

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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 Cro...

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Bibliographic Details
Main Authors: B. Lozić, J. Ljubković, D. Gabrić Pandurić, I. Saltvig, K. Kutsche, V. Krželj, T. Zemunik
Format: Article
Language:English
Published: Associação Brasileira de Divulgação Científica 2012-12-01
Series:Brazilian Journal of Medical and Biological Research
Subjects:
OFCD syndrome
BCOR gene
Talon cusp
Intrafamilial phenotypic variability
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2012001200030&lng=en&tlng=en

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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2012001200030&lng=en&tlng=en

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