A novel CASR mutation (p.Glu757Lys) causing autosomal dominant hypocalcaemia type 1

A novel CASR mutation (p.Glu757Lys) causing autosomal dominant hypocalcaemia type 1

Autosomal dominant hypocalcaemia type 1 (ADH1) is a rare familial disorder characterised by low serum calcium and low or inappropriately normal serum PTH. It is caused by activating CASR mutations, which produces a left-shift in the set point for extracellular calcium. We describe an Australian fami...

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Bibliographic Details
Main Authors: Benjamin Kwan, Bernard Champion, Steven Boyages, Craig F Munns, Roderick Clifton-Bligh, Catherine Luxford, Bronwyn Crawford
Format: Article
Language:English
Published: Bioscientifica 2018-09-01
Series:Endocrinology, Diabetes & Metabolism Case Reports
Online Access:https://edm.bioscientifica.com/view/journals/edm/2018/1/EDM18-0107.xml

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https://edm.bioscientifica.com/view/journals/edm/2018/1/EDM18-0107.xml

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