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2q37 Deletions in Patients With an Albright Hereditary Osteodystrophy Phenotype and PTH Resistance

Pseudohypoparathyroidism (PHP) is a rare endocrine disorder derived from the defective activation of the cAMP pathway by the parathyroid hormone secondary to GNAS molecular defects. PHP subtypes are defined by the presence/absence of specific clinical/biochemical features. PHP1A is characterized by...

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Detalles Bibliográficos
Autores principales: Elli, Francesca Marta, de Sanctis, Luisa, Madeo, Bruno, Maffini, Maria A., Bordogna, Paolo, Pirelli, Arianna, Arosio, Maura, Mantovani, Giovanna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6727065/
https://www.ncbi.nlm.nih.gov/pubmed/31555217
http://dx.doi.org/10.3389/fendo.2019.00604