Mosaicism for GNAS methylation defects associated with pseudohypoparathyroidism type 1B arose in early post-zygotic phases

Mosaicism for GNAS methylation defects associated with pseudohypoparathyroidism type 1B arose in early post-zygotic phases

Abstract Background Pseudohypoparathyroidism type 1B (PHP1B; MIM#603233) is a rare imprinting disorder (ID), associated with the GNAS locus, characterized by parathyroid hormone (PTH) resistance in the absence of other endocrine or physical abnormalities. Sporadic PHP1B cases, with no known underlyi...

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Bibliographic Details
Main Authors: Francesca Marta Elli, Paolo Bordogna, Maura Arosio, Anna Spada, Giovanna Mantovani
Format: Article
Language:English
Published: BMC 2018-02-01
Series:Clinical Epigenetics
Subjects:
GNAS
Imprinting
Mosaicism
Pseudohypoparathyroidism
Albright hereditary osteodystrophy
PTH resistance
Online Access:http://link.springer.com/article/10.1186/s13148-018-0449-4

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http://link.springer.com/article/10.1186/s13148-018-0449-4

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