Associated Papers
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
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
31164752 (PubMed )
Supplement: 41436_2019_566_MOESM2_ESM.xlsx › Sheet1
Urinary tract effects of HPSE2 mutations.
Stuart HM et al.
Journal of the American Society of Nephrology : Jasn, 2015
Exome capture and massively parallel sequencing identifies a novel HPSE2 mutation in a Saudi Arabian child with Ochoa (urofacial) syndrome.
Al Badr W et al.
Journal of Pediatric Urology, 2011
Select a paper to view details