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 Osteodystrophy (AHO) the current classification results inadequate because of the clinical overlap between molecular subtypes and a standard clinical approach is still missing. In the present paper several members of the Study Group Endocrine diseases due to altered function of Gsα protein of the Italian Society of Pediatric Endocrinology and Diabetology (ISPED) have reviewed and updated the clinical-molecular data of the largest case series of (epi)/genetically characterized AHO/PHP patients; they then produced a common healthcare pathway for patients with these disorders.

De Sanctis, L., Giachero, F., Mantovani, G., Weber, G., Salerno, M., Baroncelli, G., et al. (2016). Genetic and epigenetic alterations in the GNAS locus and clinical consequences in Pseudohypoparathyroidism: Italian common healthcare pathways adoption. THE ITALIAN JOURNAL OF PEDIATRICS, 42(1), 1-13 [10.1186/s13052-016-0310-3].

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

SCIRE', GIUSEPPE;
2016-01-01

Abstract

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 Osteodystrophy (AHO) the current classification results inadequate because of the clinical overlap between molecular subtypes and a standard clinical approach is still missing. In the present paper several members of the Study Group Endocrine diseases due to altered function of Gsα protein of the Italian Society of Pediatric Endocrinology and Diabetology (ISPED) have reviewed and updated the clinical-molecular data of the largest case series of (epi)/genetically characterized AHO/PHP patients; they then produced a common healthcare pathway for patients with these disorders.
2016
Pubblicato
Rilevanza internazionale
Articolo
Sì, ma tipo non specificato
Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA
English
Con Impact Factor ISI
Albright Hereditary Osteodystrophy; GNAS gene; GNAS locus; PTH resistance; Pseudohypoparathyroidism
De Sanctis, L., Giachero, F., Mantovani, G., Weber, G., Salerno, M., Baroncelli, G., et al. (2016). Genetic and epigenetic alterations in the GNAS locus and clinical consequences in Pseudohypoparathyroidism: Italian common healthcare pathways adoption. THE ITALIAN JOURNAL OF PEDIATRICS, 42(1), 1-13 [10.1186/s13052-016-0310-3].
De Sanctis, L; Giachero, F; Mantovani, G; Weber, G; Salerno, M; Baroncelli, G; Elli, M; Matarazzo, P; Wasniewska, M; Mazzanti, L; Scire', G; Tessaris, D
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/171085
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