Urofacial syndrome

Garcia-Minaur S et al. (2001) Three new European cases of urofacial (Ochoa) syndrome.

Aydogdu O et al. (2010) Ochoa syndrome: a spectrum of urofacial syndrome.

Derbent M et al. (2009) Urofacial (ochoa) syndrome: can a facial gestalt represent severe voiding dysfunction?

Pang J et al. (2010) Loss-of-function mutations in HPSE2 cause the autosomal recessive urofacial syndrome.

Daly SB et al. (2010) Mutations in HPSE2 cause urofacial syndrome.

None (1979) Genetic and diagnostic considerations in three families with abnormalities of facial expression and congenital urinary obstruction: "The Ochoa syndrome".

Teebi AS et al. (1989) Urofacial syndrome.

Ochoa B et al. (1987) Urofacial (ochoa) syndrome.

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.

Wang CY et al. (1999) Genetic homogeneity, high-resolution mapping, and mutation analysis of the urofacial (Ochoa) syndrome and exclusion of the glutamate oxaloacetate transaminase gene (GOT1) in the critical region as the disease gene.

Chauve X et al. (2000) Genetic homogeneity of the urofacial (Ochoa) syndrome confirmed in a new French family.

Wang CY et al. (2003) High resolution mapping and mutation analyses of candidate genes in the urofacial syndrome (UFS) critical region.

OMIM.ORG article

Orphanet article

Wikipedia article