Evaggelia Zapanti, Aikaterini Polonifi, Michalis Kokkinos, George Boutzios, Georgia Kassi, Narjes Nasiri Ansari, Eva Kassi, Aris Polyzos
PURPOSE: Inactivating mutations of the calcium-sensing receptor (CASR) gene cause familial hypocalciuric hypercalcaemia (FHH). Here we report three siblings with FHH caused by a novel mutation in the CASR. METHODS: The case subject was a 60-year-old patient referred because of mild hypercalcaemia …