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

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...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9259970/
https://www.ncbi.nlm.nih.gov/pubmed/35812751
http://dx.doi.org/10.3389/fgene.2022.896125

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