Genotype Phenotype Correlation in Dent Disease 2 and Review of the Literature: OCRL Gene Pleiotropism or Extreme Phenotypic Variability of Lowe Syndrome?

Dent disease is a rare X-linked renal tubulopathy due to CLCN5 and OCRL (DD2) mutations. OCRL mutations also cause Lowe syndrome (LS) involving the eyes, brain and kidney. DD2 is frequently described as a mild form of LS because some patients may present with extra-renal symptoms (ESs). Since DD2 is...

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Detalles Bibliográficos
Autores principales: Gianesello, Lisa, Arroyo, Jennifer, Del Prete, Dorella, Priante, Giovanna, Ceol, Monica, Harris, Peter C., Lieske, John C., Anglani, Franca
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8535715/
https://www.ncbi.nlm.nih.gov/pubmed/34680992
http://dx.doi.org/10.3390/genes12101597

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