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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...
Autores principales: | Elli, Francesca Marta, de Sanctis, Luisa, Madeo, Bruno, Maffini, Maria A., Bordogna, Paolo, Pirelli, Arianna, Arosio, Maura, Mantovani, Giovanna |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2019
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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 |
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