A novel CASR variant in a family with familial hypocalciuric hypercalcaemia and primary hyperparathyroidism

Familial hypocalciuric hypercalcaemia (FHH) is a dominantly inherited, lifelong benign disorder characterised by asymptomatic hypercalcaemia, relative hypocalciuria and variable parathyroid hormone levels. It is caused by loss-of-function pathogenic variants in the calcium-sensing receptor (CASR) ge...

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Bibliografski detalji

Glavni autori:	Satyanarayana V Sagi, Hareesh Joshi, Jamie Trotman, Terence Elsey, Ashwini Swamy, Jeyanthy Rajkanna, Nazir A Bhat, Firas J S Haddadin, Samson O Oyibo, Soo-Mi Park
Format:	Artigo
Jezik:	Inglês
Izdano:	Bioscientifica 2020-09-01
Serija:	Endocrinology, Diabetes & Metabolism Case Reports
Online pristup:	https://edm.bioscientifica.com/view/journals/edm/2020/1/EDM20-0084.xml
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