Case report: extreme coronary calcifications and hypomagnesemia in a patient with a 17q12 deletion involving HNF1B

BACKGROUND: 17q12 deletion syndrome encompasses a broad constellation of clinical phenotypes, including renal magnesium wasting, maturity-onset diabetes of the young (MODY), renal cysts, genitourinary malformations, and neuropsychiatric illness. Manifestations outside of the renal, endocrine, and ne...

Descripción completa

Detalles Bibliográficos
Autores principales: Li, Howard J., Groden, Catherine, Hoenig, Melanie P., Ray, Evan C., Ferreira, Carlos R., Gahl, Willam, Novacic, Danica
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6734489/
https://www.ncbi.nlm.nih.gov/pubmed/31500578
http://dx.doi.org/10.1186/s12882-019-1533-5

Ejemplares similares

Ejemplares similares