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
Mutations in HPSE2 cause urofacial syndrome.
Daly SB et al.
American Journal of Human Genetics, 2010
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