A novel deletion involving the first GNAS exon encoding Gsα causes PHP1A without methylation changes at exon A/B

Author:

Campbell Devon,Reyes Monica,Kaygusuz Sare Betul,Abali Saygın,Guran Tulay,Bereket Abdullah,Kagami Masayo,Turan Serap,Jüppner Harald

Funder

National Institutes of Health

Publisher

Elsevier BV

Subject

Histology,Physiology,Endocrinology, Diabetes and Metabolism

Reference20 articles.

1. Pseudohypoparathyroidism - an example of "seabright-bantam syndrome";Albright;Endocrinology,1942

2. Pseudohypoparathyroidism: defective excretion of 3',5'-AMP in response to parathyroid hormone;Chase;J. Clin. Invest.,1969

3. Pseudohypoparathyroidism: assays of parathyroid hormone and thyrocalcitonin;Tashjian;Proc. Natl. Acad. Sci. U. S. A.,1966

4. Defect of receptor-cyclase coupling protein in pseudohypoparathyroidism;Farfel;N. Engl. J. Med.,1980

5. Deficient activity of guanine nucleotide regulatory protein in erythrocytes from patients with pseudohypoparathyroidism;Levine;Biochem. Biophys. Res. Commun.,1980

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