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...

ver descrição completa

Detalhes bibliográficos

Principais autores:	Glenda M. Beaman, Filipa M. Lopes, Aybike Hofmann, Wolfgang Roesch, Martin Promm, Emilia K. Bijlsma, Chirag Patel, Aykut Akinci, Berk Burgu, Jeroen Knijnenburg, Gladys Ho, Christina Aufschlaeger, Sylvia Dathe, Marie Antoinette Voelckel, Monika Cohen, Wyatt W. Yue, Helen M. Stuart, Edward A. Mckenzie, Mark Elvin, Neil A. Roberts, Adrian S. Woolf, William G. Newman
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Frontiers Media S.A. 2022-06-01
coleção:	Frontiers in Genetics
Assuntos:	HPSE2 urofacial heparanase-2 LRIG2 missense Ochoa syndrome
Acesso em linha:	https://www.frontiersin.org/articles/10.3389/fgene.2022.896125/full
Tags:	Adicionar Tag Sem tags, seja o primeiro a adicionar uma tag!