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

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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Detalhes bibliográficos
Main Authors: Lozić, B., Ljubković, J., Gabrić Pandurić, D., Saltvig, I., Kutsche, K., Krželj, V., Zemunik, T.
Formato: Artigo
Idioma:Inglês
Publicado em: Sociedade Brasileira de Medicina Tropical 2012
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3854205/
https://ncbi.nlm.nih.gov/pubmed/22983184
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1590/S0100-879X2012007500150
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