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

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

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...

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Main Authors: Daniele Tessaris, Elisa Bonino, Giovanna Weber, Malgorzata Wasniewska, Domenico Corica, Marco Pitea, Giuseppe Scirè, Manuela Caruso-Nicoletti, Danilo Fintini, Luisa de Sanctis
Format: Article
Language:English
Published: BMC 2021-03-01
Series:Italian Journal of Pediatrics
Subjects:
Pseudohypoparathyroidism
GNAS locus
iPPSDs
PHP
Healthcare pathway
Online Access:https://doi.org/10.1186/s13052-021-01000-z

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