Improved Molecular Diagnosis of McCune–Albright Syndrome and Bone Fibrous Dysplasia by Digital PCR

Improved Molecular Diagnosis of McCune–Albright Syndrome and Bone Fibrous Dysplasia by Digital PCR

McCune–Albright syndrome (MAS) is a rare congenital disorder characterized by the association of endocrine and nonendocrine anomalies caused by somatic activating variants of GNAS. The mosaic state of variants makes the clinical presentation extremely heterogeneous depending on involved tissues. Bio...

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Bibliographic Details
Main Authors: Francesca Marta Elli, Luisa de Sanctis, Massimiliano Bergallo, Maria Antonia Maffini, Arianna Pirelli, Ilaria Galliano, Paolo Bordogna, Maura Arosio, Giovanna Mantovani
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-09-01
Series:Frontiers in Genetics
Subjects:
McCune–Albright’s syndrome
bone fibrous dysplasia
precocious puberty
GNAS
mosaicism
digital PCR
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2019.00862/full

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https://www.frontiersin.org/article/10.3389/fgene.2019.00862/full

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