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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Auteurs principaux:	Marion Aubert-Mucca, Charlotte Dubucs, Marion Groussolles, Julie Vial, Edouard Le Guillou, Valerie Porquet-Bordes, Eric Pasmant, Jean-Pierre Salles, Thomas Edouard
Format:	Artigo
Langue:	Inglês
Publié:	Elsevier 2021-12-01
Collection:	Bone Reports
Sujets:	Calcimimetics Calcium-sensing receptor Familial hypocalciuric hypercalcemia Neonatal severe hyperparathyroidism
Accès en ligne:	http://www.sciencedirect.com/science/article/pii/S2352187221003533
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