Familial hypocalciuric hypercalcaemia type 1 caused by a novel heterozygous missense variant in the CaSR gene, p(His41Arg): two case reports

Familial hypocalciuric hypercalcaemia type 1 caused by a novel heterozygous missense variant in the CaSR gene, p(His41Arg): two case reports

Abstract Background Familial hypocalciuric hypercalcaemia (FHH) is a rare, inherited disorder of extracellular calcium sensing. It is clinically characterised by mild to moderate parathyroid hormone dependent hypercalcaemia, an autosomal dominant pattern of inheritance, and a normal to reduced urina...

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Bibliografische gegevens
Hoofdauteurs: Aoife Courtney, Arnold Hill, Diarmuid Smith, Amar Agha
Formaat: Artikel
Taal:English
Gepubliceerd in: BMC 2022-12-01
Reeks:BMC Endocrine Disorders
Onderwerpen:
Familial hypocalciuric hypercalcaemia
Primary hyperparathyroidism
PTH dependent hypercalcaemia
CaSR gene mutation
Calcium metabolism
Online toegang:https://doi.org/10.1186/s12902-022-01231-z

Internet

https://doi.org/10.1186/s12902-022-01231-z

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