Prenatal features and neonatal management of severe hyperparathyroidism caused by the heterozygous inactivating calcium-sensing receptor variant, Arg185Gln: A case report and review of the literature

BACKGROUND: Loss-of-function variants in the calcium-sensing receptor (CASR) gene are known to be involved in a clinical spectrum ranging from asymptomatic familial hypocalciuric hypercalcemia (FHH) to neonatal severe hyperparathyroidism (NSHPT). Homozygous or compound heterozygous variants are usua...

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Detalles Bibliográficos
Autores principales: Aubert-Mucca, Marion, Dubucs, Charlotte, Groussolles, Marion, Vial, Julie, Le Guillou, Edouard, Porquet-Bordes, Valerie, Pasmant, Eric, Salles, Jean-Pierre, Edouard, Thomas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8209172/
https://www.ncbi.nlm.nih.gov/pubmed/34169121
http://dx.doi.org/10.1016/j.bonr.2021.101097

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