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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...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Sociedade Brasileira de Medicina Tropical
2012
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| Materias: | |
| 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 |