Mutations of calcium-sensing receptor gene: two novel mutations and overview of impact on calcium homeostasis.

Livadariu, Elena; Auriemma, Renata S; Rydlewski, C.; Vandeva, Silvia; Hamoir, E; Burlacu, Maria C; Maweja, Sylvie; Thonnard, Anne S; Betea, Daniela; Vassart, Gilbert; Daly, Adrian F; Beckers, A

doi:doi/10.1530/EJE-11-0121

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Mutations of calcium-sensing receptor gene: two novel mutations and overview of impact on calcium homeostasis.

par Livadariu, Elena ;Auriemma, Renata S ;Rydlewski, C.;Vandeva, Silvia ;Hamoir, E ;Burlacu, Maria C ;Maweja, Sylvie ;Thonnard, Anne S ;Betea, Daniela ;Vassart, Gilbert

;Daly, Adrian F ;Beckers, A
Référence European journal of endocrinology, 165, 2, page (353-358)
Publication Publié, 2011-08

Article révisé par les pairs

Résumé :

Genetic disorders of calcium metabolism arise in a familial or sporadic setting. The calcium-sensing receptor (CASR) plays a key role in maintaining calcium homeostasis and study of the CASR gene can be clinically useful in determining etiology and appropriate therapeutic approaches. We report two cases of novel CASR gene mutations that illustrate the varying clinical presentations and discuss these in terms of the current understanding of CASR function.

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