Oculo-facio-cardio-dental (OFCD) syndrome: the first Italian case of BCOR and co-occurring OTC gene deletion.

@article{Stfano2015OculofaciocardiodentalS,
  title={Oculo-facio-cardio-dental (OFCD) syndrome: the first Italian case of BCOR and co-occurring OTC gene deletion.},
  author={Carlos Di St{\'e}fano and Barbara Lombardo and C Fabbricatore and C Munno and I Caliendo and Francesco Gallo and Lucio Pastore},
  journal={Gene},
  year={2015},
  volume={559 2},
  pages={203-6}
}
Oculo-facio-cardio-dental (OFCD) syndrome is a rare genetic disorder affecting ocular, facial, dental and cardiac systems. The syndrome is an X-linked dominant trait and it might be lethal in males. This syndrome is usually caused by mutations in the BCL6 interacting co-repressor gene (BCOR). We described a female child with mild phenotype of oculo-facio-cardio-dental syndrome. Array-comparative genomic hybridization (a-CGH) analysis revealed a de novo heterozygous deletion in the Xp11.4 region… CONTINUE READING

References

Publications referenced by this paper.
Showing 1-10 of 19 references

Identification of a deletion in the NDUFS4 gene using arraycomparative genomic hybridization in a patient with suspected mitochondrial respiratory disease

  • B Lombardo
  • Gene 535,
  • 2014

Novel BCORmutations in patients with oculofaciocardiodental (OFCD) syndrome

  • Feberwee, H.E
  • Clin. Genet
  • 2014

A case of oculo-facio-cardio-dental syndrome with integrated orthodontic–prosthodontic treatment

  • T Kawamoto
  • Cleft Palate Craniofac. J
  • 2004

Similar Papers

Loading similar papers…