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Expanding the HPSE2 Genotypic Spectrum in Urofacial Syndrome, A Disease Featuring a Peripheral Neuropathy of the Urinary Bladder

Beaman, Glenda M. ; Lopes, Filipa M. ; Hofmann, Aybike ; Roesch, Wolfgang ; Promm, Martin ; Bijlsma, Emilia K. ; Patel, Chirag ; Akinci, Aykut ; Burgu, Berk ; Knijnenburg, Jeroen ; Ho, Gladys ; Aufschlaeger, Christina ; Dathe, Sylvia ; Voelckel, Marie Antoinette ; Cohen, Monika ; Yue, Wyatt W. ; Stuart, Helen M. ; Mckenzie, Edward A. ; Elvin, Mark ; Roberts, Neil A. ; Woolf, Adrian S. ; Newman, William G.


Urofacial (also called Ochoa) syndrome (UFS) is an autosomal recessive congenital disorder of the urinary bladder featuring voiding dysfunction and a grimace upon smiling. Biallelic variants in HPSE2, coding for the secreted protein heparanase-2, are described in around half of families genetically studied. Hpse2 mutant mice have aberrant bladder nerves. We sought to expand the genotypic spectrum ...


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