ea0015oc22 | Tumours, diabetes, bone | SFEBES2008
Hannan Fadil
, Curley Alan
, Christie Paul
, Harding Brian
, Nesbit M Andrew
, Cheeseman Michael
, Bron Anthony
, Thakker Rajesh
Activating mutations of the calcium sensing receptor (CaSR) result in autosomal dominant hypocalcaemia with hypercalciuria (ADHH), in which patients may also suffer from polyuria, polydipsia, nephrocalcinosis, renal impairment, and ectopic calcification. A mouse model, Nuf, with an activating Leu723Gln CaSR mutation has been reported to develop the features of ADHH as well as cataracts that consist of dot nuclear opacities, which have not been described in ADHH patients...