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

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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Bibliographic Details
Main Authors: Francesca Marta Elli, Luisa de Sanctis, Bruno Madeo, Maria A. Maffini, Paolo Bordogna, Arianna Pirelli, Maura Arosio, Giovanna Mantovani
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-08-01
Series:Frontiers in Endocrinology
Subjects:
pseudohypoparathyroidism
Albright hereditary osteodystrophy
brachydactyly-mental retardation syndrome
GNAS
2q37 deletion
Online Access:https://www.frontiersin.org/article/10.3389/fendo.2019.00604/full

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https://www.frontiersin.org/article/10.3389/fendo.2019.00604/full

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