Genetic homogeneity of the urofacial (Ochoa) syndrome confirmed in a new French family.
Am J Med Genet
; 95(1): 10-2, 2000 Nov 06.
Article
em En
| MEDLINE
| ID: mdl-11074487
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Obstrução Uretral
/
Face
Limite:
Adolescent
/
Female
/
Humans
/
Male
País/Região como assunto:
Europa
Idioma:
En
Revista:
Am J Med Genet
Ano de publicação:
2000
Tipo de documento:
Article
País de afiliação:
França