A Sporadic Case of Pseudohypoparathyroidism Type 1 and Idiopathic Primary Adrenal Insufficiency Associated with a Novel Mutation in the Gnas1 Gene
Author:
Publisher
Elsevier BV
Subject
Endocrinology,General Medicine,Endocrinology, Diabetes and Metabolism
Link
http://aace.metapress.com/index/B07Q526384402844.pdf
Reference13 articles.
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3. Pseudohypoparathyroidism: from bedside to bench and back;Levine;J Bone Miner Res.,1999
4. Growth hormone-releasing hormone resistance in pseudohypoparathyroidism type Ia: new evidence for imprinting of the Gs alpha gene;Mantovani;J Clin Endocrinol Metab.,2003
5. Recombinant human GH replacement therapy in children with pseudohypoparathyroidism type Ia: first study on the effect on growth;Mantovani;J Clin Endocrinol Metab.,2010
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1. La résistance hormonale multiple des pseudohypoparathyroïdies;Bulletin de l'Académie Nationale de Médecine;2024-01
2. A Novel GNAS Mutation in a Patient with Ia Pseudohypoparathyroidism (iPPSD2) Phenotype;Genes;2023-01-26
3. GNAS mutation is an unusual cause of primary adrenal insufficiency: a case report;BMC Pediatrics;2022-08-04
4. A novel GNAS mutation in pseudohypoparathyroidism type 1a in a Chinese man presented with recurrent seizure: a case report;BMC Endocrine Disorders;2021-01-09
5. Resistance to calcium-vitamin D supplementation in pseudohypoparathyroidism: Think of malabsorption;Annales d'Endocrinologie;2020-12
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