Identification of a novel GNAS mutation in a case of pseudohypoparathyroidism type 1A with normocalcemia
Author:
Funder
National Natural Science Foundation of China
Natural Science Foundation of Hunan
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1186/s12881-018-0648-z.pdf
Reference40 articles.
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2. Nakamura Y, Matsumoto T, Tamakoshi A, et al. Prevalence of idiopathic hypoparathyroidism and pseudohy-poparathyroidism in Japan. J Epidemiol. 2000;10(1):29–33.
3. Underbjerg L, Sikjaer T, Mosekilde L, et al. Pseudohypoparathyroidism - epidemiology, mortality and risk of complications. Clin Endocrinol. 2016;84(6):904–11.
4. de Sanctis L. Pseudohypoparathyroidism: history of the disease. J Pediatr Endocrinol Metab. 2006;19:627–33.
5. Farfel Z, Bourne HR, Iiri T. The expanding spectrum of G protein diseases. N Engl J Med. 1999;340(13):1012–20.
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