Autosomal Dominant Hypoparathyroidism Caused by Germline Mutation inGNA11: Phenotypic and Molecular Characterization-Reference-Cited by-同舟云学术

Autosomal Dominant Hypoparathyroidism Caused by Germline Mutation inGNA11: Phenotypic and Molecular Characterization

Published:2014-09-01 Issue:9 Volume:99 Page:E1774-E1783
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:

Author:

Li Dong¹,Opas Evan E.²,Tuluc Florin³,Metzger Daniel L.⁴⁵,Hou Cuiping¹,Hakonarson Hakon¹⁶⁷,Levine Michael A.²⁸⁷

Affiliation:

1. Center for Applied Genomics (D.L., C.H., H.H.), Philadelphia, Pennsylvania 19104

2. Division of Endocrinology and Diabetes (E.E.O., M.A.L.), Philadelphia, Pennsylvania 19104

3. Division of Allergy and Immunology (F.T.), Philadelphia, Pennsylvania 19104

4. Endocrinology and Diabetes Unit (D.L.M.), Vancouver, British Columbia, Canada V5Z 4H4

5. British Columbia Children's Hospital, and Department of Pediatrics (D.L.M.), University of British Columbia, Vancouver, British Columbia, Canada V5Z 4H4

6. Division of Pulmonary Medicine (H.H.), Philadelphia, Pennsylvania 19104

7. Department of Pediatrics (H.H., M.A.L.), University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania 19104

8. Center for Bone Health (M.A.L.), The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104

Publisher

The Endocrine Society

Subject

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

Link

http://academic.oup.com/jcem/article-pdf/99/9/E1774/9048004/jcem1774.pdf

Reference42 articles.

1. Familial isolated hypoparathyroidism: a molecular genetic analysis of 8 families with 23 affected persons;Ahn;Medicine (Baltimore),1986

2. Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation;Pollak;Nat Genet,1994

3. A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor;Pearce;N Engl J Med,1996

4. Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB;Ding;J Clin Invest,2001

5. Hypoparathyroidism: from diagnosis to treatment;De Sanctis;Curr Opin Endocrinol Diabetes Obes,2012

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