Autosomal Dominant PTH Gene Signal Sequence Mutation in a Family With Familial Isolated Hypoparathyroidism

Author:

Cinque Luigia,Sparaneo Angelo,Penta Laura,Mencarelli Amedea,Rogaia Daniela,Esposito Susanna,Fabrizio Federico Pio,Baorda Filomena,Verrotti Alberto,Falorni Alberto,Stangoni Gabriela,Hendy Geoffrey N,Guarnieri Vito,Prontera Paolo

Publisher

The Endocrine Society

Subject

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

Reference27 articles.

1. Presentation of hypoparathyroidism: etiologies and clinical features;J Clin Endocrinol Metab,2016

2. Hypoparathyroidism and pseudohypoparathyroidism,2000-2017 19

3. Familial Isolated Hypoparathyroidism

4. Disorders of the calcium-sensing receptor and partner proteins: insights into the molecular basis of calcium homeostasis;J Mol Endocrinol,2016

5. Autosomal dominant hypocalcemia (hypoparathyroidism) types 1 and 2;Front Physiol,2016

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