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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...
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| Main Authors: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Sociedade Brasileira de Medicina Tropical
2012
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| Assuntos: | |
| 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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