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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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Detalles Bibliográficos
Autores principales:	Elli, Francesca Marta, de Sanctis, Luisa, Bergallo, Massimiliano, Maffini, Maria Antonia, Pirelli, Arianna, Galliano, Ilaria, Bordogna, Paolo, Arosio, Maura, Mantovani, Giovanna
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2019
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6760069/ https://www.ncbi.nlm.nih.gov/pubmed/31620168 http://dx.doi.org/10.3389/fgene.2019.00862

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