SAT-340 Familial Hypocalciuric Hypercalcemia Due to a C.571G>A (p.Glu191Lys) Variant in the GNA11 Gene

Background: Familial hypocalciuric hypercalcemia (FHH) type 1 is caused by inactivating pathogenic variants in the calcium sensing receptor (CASR) gene and clinically presents with serum hypercalcemia, low urine calcium excretion, and inappropriately normal PTH response. In a minority of patients wi...

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Detalles Bibliográficos
Autores principales: Jeng, Henry Shiheng, Knoll, Michelle, Del Viso, Florencia, Baker, Darren, Repnikova, Elena, Feldt, Matthew Maximilian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Bone and Mineral Metabolism
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7209081/
http://dx.doi.org/10.1210/jendso/bvaa046.626

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7209081/
http://dx.doi.org/10.1210/jendso/bvaa046.626

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