De novo HNF1 homeobox B mutation as a cause for chronic, treatment-resistant hypomagnesaemia

29-year-old female presenting with an 8-year history of unexplained hypomagnesaemia, which was severe enough to warrant intermittent inpatient admission for intravenous magnesium. Urinary magnesium was inappropriately normal in the context of hypomagnesaemia indicating magnesium wasting. Ultrasound...

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Detalles Bibliográficos
Autores principales: Stiles, C E, Thuraisingham, R, Bockenhauer, D, Platts, L, Kumar, A V, Korbonits, M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2018
Materias:
Unique/Unexpected Symptoms or Presentations of a Disease
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5863246/
https://www.ncbi.nlm.nih.gov/pubmed/29576871
http://dx.doi.org/10.1530/EDM-17-0120

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5863246/
https://www.ncbi.nlm.nih.gov/pubmed/29576871
http://dx.doi.org/10.1530/EDM-17-0120

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