Associated Papers
Urofacial (Ochoa) syndrome with a founder pathogenic variant in the HPSE2 gene: a case report and mutation origin.
Del Valle-Peréz M et al.
Journal of Applied Genetics, 2025
Expanding the HPSE2 Genotypic Spectrum in Urofacial Syndrome, A Disease Featuring a Peripheral Neuropathy of the Urinary Bladder.
Beaman GM et al.
Frontiers in Genetics, 2022
Heparanase 2 and Urofacial Syndrome, a Genetic Neuropathy.
Roberts NA et al.
Advances in Experimental Medicine and Biology, 2020
Urinary tract effects of HPSE2 mutations.
Stuart HM et al.
Journal of the American Society of Nephrology : Jasn, 2015
Loss-of-function mutations in HPSE2 cause the autosomal recessive urofacial syndrome.
Pang J et al.
American Journal of Human Genetics, 2010
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