A HomozygousCaSRMutation Causing a FHH Phenotype Completely Masked by Vitamin D Deficiency Presenting as Rickets-Reference-Cited by-同舟云学术

A HomozygousCaSRMutation Causing a FHH Phenotype Completely Masked by Vitamin D Deficiency Presenting as Rickets

Published:2014-06-01 Issue:6 Volume:99 Page:E1146-E1153
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:

Author:

Szczawinska Dorothea¹,Schnabel Dirk²,Letz Saskia¹,Schöfl Christof¹

Affiliation:

1. Division of Endocrinology and Diabetes (D.Sz., S.L., C.S.), Department of Medicine I, Friedrich-Alexander University Erlangen-Nuremberg, 91054 Erlangen, Germany;

2. Department of Pediatric Endocrinology and Diabetes (D.Sc.), Children's Hospital, Charité-Univerity Medicine Berlin, 13353 Berlin, Germany

Publisher

The Endocrine Society

Subject

Biochemistry (medical),Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

Link

http://academic.oup.com/jcem/article-pdf/99/6/E1146/9046731/jcem1146.pdf

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4. Extracellular calcium sensing and signalling;Hofer;Nat Rev Mol Cell Biol,2003

5. Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia;Nesbit;N Engl J Med,2013

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