Urofacial syndrome is an autosomal recessive disorder caused by mutations of the HPSE2 gene. It is characterized by a typical facial expression and bladder voiding dysfunction.
1. |
Garcia-Minaur S et al. (2001) Three new European cases of urofacial (Ochoa) syndrome. |
2. |
Aydogdu O et al. (2010) Ochoa syndrome: a spectrum of urofacial syndrome. |
3. |
Derbent M et al. (2009) Urofacial (ochoa) syndrome: can a facial gestalt represent severe voiding dysfunction? |
4. |
Pang J et al. (2010) Loss-of-function mutations in HPSE2 cause the autosomal recessive urofacial syndrome. |
5. |
Daly SB et al. (2010) Mutations in HPSE2 cause urofacial syndrome. |
6. |
None (1979) Genetic and diagnostic considerations in three families with abnormalities of facial expression and congenital urinary obstruction: "The Ochoa syndrome". |
7. |
Teebi AS et al. (1989) Urofacial syndrome. |
8. |
Ochoa B et al. (1987) Urofacial (ochoa) syndrome. |
9. |
Wang CY et al. (1997) Homozygosity and linkage-disequilibrium mapping of the urofacial (Ochoa) syndrome gene to a 1-cM interval on chromosome 10q23-q24. |
11. |
Chauve X et al. (2000) Genetic homogeneity of the urofacial (Ochoa) syndrome confirmed in a new French family. |
12. |
Wang CY et al. (2003) High resolution mapping and mutation analyses of candidate genes in the urofacial syndrome (UFS) critical region. |
13. |
OMIM.ORG article Omim 236730 |
14. |
Orphanet article Orphanet ID 2704 |
15. |
Wikipedia article Wikipedia EN (Urofacial_syndrome) |