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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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Ital J Pediatr
Egile Nagusiak: 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.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BioMed Central 2016
Gaiak:
Research
Sarrera elektronikoa: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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