Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2005 Jul 30;136(3):275-7.
doi: 10.1002/ajmg.a.30811.

Case reports of oculofaciocardiodental syndrome with unusual dental findings

Snehlata Oberoi  1 , Alison E Winder, Jennifer Johnston, Karin Vargervik, Anne M Slavotinek
Affiliations
Review

Case reports of oculofaciocardiodental syndrome with unusual dental findings

Snehlata Oberoi et al. Am J Med Genet A. .

Erratum in

  • Am J Med Genet A. 2005 Nov 15;139(1):54

Abstract

We report on two new cases of oculofaciocardiodental (OFCD) syndrome characterized by cataracts, microphthalmia, facial anomalies, cleft palate, cardiac septal defects, and canine radiculomegaly. We also review previous patients. The syndrome is caused by mutations in the BCOR gene, which maps to Xp11.4. Mutational analysis in one of our patients showed a deletion of a single nucleotide, c.2613delC, predicting a novel frameshift mutation with a premature stop codon, p.F871Lfs8X.

PubMed Disclaimer

LinkOut - more resources