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

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 urinary calci...

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Detalles Bibliográficos
Autores principales: Courtney, Aoife, Hill, Arnold, Smith, Diarmuid, Agha, Amar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9761639/
https://www.ncbi.nlm.nih.gov/pubmed/36536367
http://dx.doi.org/10.1186/s12902-022-01231-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9761639/
https://www.ncbi.nlm.nih.gov/pubmed/36536367
http://dx.doi.org/10.1186/s12902-022-01231-z

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