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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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Hoofdauteurs: Francesca Marta Elli, Luisa de Sanctis, Massimiliano Bergallo, Maria Antonia Maffini, Arianna Pirelli, Ilaria Galliano, Paolo Bordogna, Maura Arosio, Giovanna Mantovani
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Frontiers Media S.A. 2019-09-01
Reeks:Frontiers in Genetics
Onderwerpen:
McCune–Albright’s syndrome
bone fibrous dysplasia
precocious puberty
GNAS
mosaicism
digital PCR
Online toegang:https://www.frontiersin.org/article/10.3389/fgene.2019.00862/full
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