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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主要な著者:	Francesca Marta Elli, Luisa de Sanctis, Massimiliano Bergallo, Maria Antonia Maffini, Arianna Pirelli, Ilaria Galliano, Paolo Bordogna, Maura Arosio, Giovanna Mantovani
フォーマット:	Artigo
言語:	Inglês
出版事項:	Frontiers Media S.A. 2019-09-01
シリーズ:	Frontiers in Genetics
主題:	McCune–Albright’s syndrome bone fibrous dysplasia precocious puberty GNAS mosaicism digital PCR
オンライン･アクセス:	https://www.frontiersin.org/article/10.3389/fgene.2019.00862/full
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