Neurogenic Defects Occur in LRIG2-Associated Urinary Bladder Disease

INTRODUCTION: Urofacial, or Ochoa, syndrome (UFS) is an autosomal recessive disease featuring a dyssynergic bladder with detrusor smooth muscle contracting against an undilated outflow tract. It also features an abnormal grimace. Half of individuals with UFS carry biallelic variants in HPSE2, wherea...

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Detalles Bibliográficos
Autores principales: Grenier, Celine, Lopes, Filipa M., Cueto-González, Anna M., Rovira-Moreno, Eulàlia, Gander, Romy, Jarvis, Benjamin W., McCloskey, Karen D., Gurney, Alison M., Beaman, Glenda M., Newman, William G., Woolf, Adrian S., Roberts, Neil A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Translational Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10334403/
https://www.ncbi.nlm.nih.gov/pubmed/37441484
http://dx.doi.org/10.1016/j.ekir.2023.04.017

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