학술논문

Expanding the HPSE2 Genotypic Spectrum in Urofacial Syndrome, A Disease Featuring a Peripheral Neuropathy of the Urinary Bladder.
Document Type
Article
Source
Frontiers in Genetics; 6/23/2022, Vol. 13, p1-14, 14p
Subject
PERIPHERAL neuropathy
GENOTYPES
NEURAL crest
URINARY organs
MISSENSE mutation
BLADDER
DYSPLASIA
Language
ISSN
16648021
Abstract
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