Pseudohypoparathyroidism: application of the Italian common healthcare-pathway for a homogeneous clinical approach and a shared follow up

• Auteurs principaux: Daniele Tessaris (Auteur), Elisa Bonino (Auteur), Giovanna Weber (Auteur), Malgorzata Wasniewska (Auteur), Domenico Corica (Auteur), Marco Pitea (Auteur), Giuseppe Scirè (Auteur), Manuela Caruso-Nicoletti (Auteur), Danilo Fintini (Auteur), Luisa de Sanctis (Auteur)
• Format: Livre
• Publié: BMC, 2021-03-01T00:00:00Z.
• Sujets: article
• Accès en ligne: Connect to this object online.

Abstract Background Pseudohypoparathyroidism (PHP) represents a heterogeneous group of rare endocrine disorders caused by (epi) genetic abnormalities affecting the GNAS locus. It is mainly characterized by resistance to PTH and TSH, and by peculiar clinical features such as short stature, obesity, c...