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

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, cognitive...

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Detalhes bibliográficos
Publicado no:Ital J Pediatr
Main Authors: Tessaris, Daniele, Bonino, Elisa, Weber, Giovanna, Wasniewska, Malgorzata, Corica, Domenico, Pitea, Marco, Scirè, Giuseppe, Caruso-Nicoletti, Manuela, Fintini, Danilo, de Sanctis, Luisa
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2021
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7934261/
https://ncbi.nlm.nih.gov/pubmed/33663571
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13052-021-01000-z
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