A family with autosomal dominant hypocalcaemia with hypercalciuria (ADHH): mutational analysis, phenotypic variability and treatment challenges.

Autosomal dominant hypocalcaemia with hypercalciuria (ADHH) is an intriguing syndrome, in which activating mutations of the calcium sensing receptor (CaSR) have recently been recognised. We describe a kindred with seven affected individuals across three generations, including patients affected in th...

詳細記述

書誌詳細
主要な著者: Burren, C, Curley, A, Christie, P, Rodda, C, Thakker, R
フォーマット: Journal article
言語:English
出版事項: 2005