Rare Case of Pseudohypoparathyroidism With Normocalcemia Because of a Novel GNAS Mutation
Author:
Affiliation:
1. Department of Internal Medicine, Texas Tech University Health Sciences Center , Odessa, TX 79765 , USA
2. Department of Endocrinology, Diabetes and Metabolism, Texas Tech University Health Science Center , Odessa, TX 79765 , USA
Abstract
Publisher
The Endocrine Society
Link
https://academic.oup.com/jcemcr/article-pdf/1/4/luad088/51075531/luad088.pdf
Reference8 articles.
1. Resistance to GHRH but not to PTH in a 15-year-old boy with pseudohypoparathyroidism 1A;Munteanu;J Endocr Soc,2019
2. Endocrine profile and phenotype-(epi)genotype correlation in Spanish patients with pseudohypoparathyroidism;Fernandez-Rebollo;J Clin Endocrinol Metab,2013
3. Growth hormone-releasing hormone resistance in pseudohypoparathyroidism type Ia: new evidence for imprinting of the Gsα gene;Mantovani;J Clin Endocrinol Metab,2003
4. Identification of two novel deletion mutations within the Gsα gene (GNAS1) in Albright hereditary osteodystrophy;Yu;J Clin Endocrinol Metab,1999
5. Pseudohypoparathyroidism: diagnosis and treatment;Mantovani;J Clin Endocrinol Metab,2011
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