Novel homozygous inactivating mutation of the calcium-sensing receptor gene in neonatal severe hyperparathyroidism responding to cinacalcet therapy: A case report and literature review

RATIONALE: Calcium-sensing receptor (CaSR) mutations can cause life-threatening neonatal severe hyperparathyroidism (NSHPT). The medical management of NSHPT is often challenging and complex. Here, we present a case of NSHPT caused by a novel homozygous CaSR mutation. PATIENT CONCERNS: A Chinese fema...

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Detalles Bibliográficos
Autores principales: Sun, Xiaomei, Huang, Liang, Wu, Jin, Tao, Yuhong, Yang, Fan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6250440/
https://www.ncbi.nlm.nih.gov/pubmed/30407334
http://dx.doi.org/10.1097/MD.0000000000013128

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