A case of familial hypocalciuric hypercalcemia type 1 due to CASR p.Pro55Leu mutation

BACKGROUND: Familial hypocalciuric hypercalcemia (FHH) is a rare autosomal dominant disease, which requires differential diagnosis from relatively common primary hyperparathyroidism (PHPT) in order to avoid unnecessary surgery. CASE PRESENTATION: A 16-year-old female had been followed by the departm...

Descripción completa

Detalles Bibliográficos
Autores principales: Sumida, Akira, Iizuka, Katsumi, Kato, Takehiro, Liu, Yanyan, Kubota, Sodai, Kubota-Okamoto, Saki, Sakurai, Teruaki, Imaizumi, Toshinori, Takahashi, Yoshihiro, Mizuno, Masami, Takao, Ken, Hirota, Takuo, Suwa, Tetsuya, Horikawa, Yukio, Yamamoto, Mayumi, Seino, Yusuke, Suzuki, Atsushi, Yabe, Daisuke
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9214973/
https://www.ncbi.nlm.nih.gov/pubmed/35733207
http://dx.doi.org/10.1186/s12902-022-01077-5

Ejemplares similares

Ejemplares similares