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

Author:

Di Stefano C.,Lombardo B.,Fabbricatore C.,Munno C.,Caliendo I.,Gallo F.,Pastore L.

Funder

Regione Campania

Publisher

Elsevier BV

Subject

Genetics,General Medicine

Reference18 articles.

1. Cataracts, radiculomegaly, septal heart defects and hearing loss in two unrelated adult females with normal intelligence and similar facial appearance. Confirmation of a syndrome?;Aalfs;Clin. Dysmorphol.,1996

2. Methylation of HpaII and Hhal sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X-chromosome inactivation;Allen;Am. J. Hum. Genet.,1992

3. Contiguous gene deletion syndrome in a female with ornithine transcarbamylase deficiency;Balasubramaniam;Mol. Genet. Metab.,2010

4. BCOR regulates mesenchymal stem cell function by epigenetic mechanisms;Fan;Nat. Cell Biol.,2009

5. Novel BCOR mutations in patients with oculofaciocardiodental (OFCD) syndrome;Feberwee;Clin. Genet.,2014

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