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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Detalles Bibliográficos
Autores principales: Lozić, B., Ljubković, J., Gabrić Pandurić, D., Saltvig, I., Kutsche, K., Krželj, V., Zemunik, T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Medicina Tropical 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3854205/
https://www.ncbi.nlm.nih.gov/pubmed/22983184
http://dx.doi.org/10.1590/S0100-879X2012007500150

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3854205/
https://www.ncbi.nlm.nih.gov/pubmed/22983184
http://dx.doi.org/10.1590/S0100-879X2012007500150

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