Novel homozygous inactivating mutation of the calcium-sensing receptor gene (CASR) in neonatal severe hyperparathyroidism—lack of effect of cinacalcet-Reference-Cited by-同舟云学术

Novel homozygous inactivating mutation of the calcium-sensing receptor gene (CASR) in neonatal severe hyperparathyroidism—lack of effect of cinacalcet

Published:2014-07 Issue: Volume:64 Page:102-107
ISSN:8756-3282
Container-title:Bone
language:en
Short-container-title:Bone

Author:

Atay Zeynep,Bereket Abdullah,Haliloglu Belma,Abali Saygin,Ozdogan Tutku,Altuncu Emel,Canaff Lucie,Vilaça Tatiane,Wong Betty Y.L.,Cole David E.C.,Hendy Geoffrey N.,Turan Serap

Funder

Canadian Institutes of Health Research

Publisher

Elsevier BV

Subject

Histology,Physiology,Endocrinology, Diabetes and Metabolism

Reference31 articles.

1. Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia;Hendy;Hum Mutat,2000

2. Role of the calcium-sensing receptor in extracellular calcium homeostasis;Brown;Best Pract Res Clin Endocrinol Metab,2013

3. Calcium-sensing receptor and associated diseases;Hendy;Prog Mol Biol Transl Sci,2009

4. Calcium-sensing receptor (CaSR) mutations and disorders of calcium, electrolyte and water metabolism;Hannan;Best Pract Res Clin Endocrinol Metab,2013

5. Primary neonatal hyperparathyroidism: a devastating neurodevelopmental disorder if left untreated;Cole;J Craniofac Genet Dev Biol,1990

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