Genetic and epigenetic alterations in the GNAS locus and clinical consequences in Pseudohypoparathyroidism: Italian common healthcare pathways adoption

BACKGROUND: Genetic and epigenetic alterations in the GNAS locus are responsible for the Gsα protein dysfunctions causing Pseudohypoparathyroidism (PHP) type Ia/c and Ib, respectively. For these heterogeneous diseases characterized by multiple hormone resistances and Albright’s Hereditary Osteodystr...

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Bibliografiske detaljer
Udgivet i:Ital J Pediatr
Main Authors: de Sanctis, L., Giachero, F., Mantovani, G., Weber, G., Salerno, M., Baroncelli, G. I., Elli, M. F., Matarazzo, P., Wasniewska, M., Mazzanti, L., Scirè, G., Tessaris, D.
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2016
Fag:
Research
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5117549/
https://ncbi.nlm.nih.gov/pubmed/27871293
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13052-016-0310-3
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