HNF1B Mutations Are Associated With a Gitelman-like Tubulopathy That Develops During Childhood

BACKGROUND: Mutations in the transcription factor hepatocyte nuclear factor 1B (HNF1B) are the most common inherited cause of renal malformations, yet also associated with renal tubular dysfunction, most prominently magnesium wasting with hypomagnesemia. The presence of hypomagnesemia has been propo...

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Detalles Bibliográficos
Autores principales: Adalat, Shazia, Hayes, Wesley N., Bryant, William A., Booth, John, Woolf, Adrian S., Kleta, Robert, Subtil, Sandra, Clissold, Rhian, Colclough, Kevin, Ellard, Sian, Bockenhauer, Detlef
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
Clinical Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732753/
https://www.ncbi.nlm.nih.gov/pubmed/31517149
http://dx.doi.org/10.1016/j.ekir.2019.05.019

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