John P. Walsh

Functional Assessment of a Constitutively Activating CASR Variant Causing Autosomal Dominant Hypocalcaemia

Abstract Context A rare cause of hypocalcaemia, autosomal dominant hypocalcaemia type 1 (ADH1) arises from a gain-of-function variant of the calcium sensing receptor gene (CASR). Objective Three patients from two unrelated families, presenting with hypocalcaemia and other biochem...