Article
The Prevalence of GNAS Deficiency-Related Diseases in a Large Cohort of Patients Characterized by the EuroPHP Network.
The Journal of clinical endocrinology and metabolism - 1 Oct 2016
Elli Francesca Marta, Linglart Agnès, Garin Intza, de Sanctis Luisa, Bordogna Paolo, Grybek Virginie, Pereda Arrate, Giachero Federica, Verrua Elisa, Hanna Patrick, Mantovani Giovanna, Perez de Nanclares Guiomar
Abstract excerpt
CONTEXT: The term pseudohypoparathyroidism (PHP) was coined to describe the clinical condition resulting from end-organ resistance to parathormone (rPTH), caused by genetic and/or epigenetic alterations within or upstream of GNAS. Although knowledge about PHP is growing, there are few data on the prevalence of underlying molecular defects. OBJECTIVE: The purpose of our study was to ascertain the relative...
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