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
Case Reports
. 2000 Nov 6;95(1):10-2.
doi: 10.1002/1096-8628(20001106)95:1<10::aid-ajmg3>3.0.co;2-z.

Genetic homogeneity of the urofacial (Ochoa) syndrome confirmed in a new French family

X Chauve  1 , C Missirian, P Malzac, L Girardot, J M Guys, C Louis, N Philip, M A Voelckel
Affiliations
Case Reports

Genetic homogeneity of the urofacial (Ochoa) syndrome confirmed in a new French family

X Chauve et al. Am J Med Genet. .

Abstract

The urofacial syndrome (UFS) or Ochoa syndrome has been reported as a rare autosomal recessive disorder comprising a uropathy and facial abnormalities. The gene was mapped on chromosome region 10q23-q24. We report the first European cases of UFS. Haplotype analyses in our French family were compared with those previously described in patients from Columbia and America (literature data). The results are compatible with the same localization of the critical region and favor the hypothesis of genetic homogeneity.

PubMed Disclaimer

Publication types

LinkOut - more resources