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CNS manifestations in patients with telomere biology disorders

OBJECTIVE: We systematically evaluated CNS manifestations in patients with inherited telomere biology disorders (TBDs) to better understand the clinical and biological consequences of germline aberrations in telomere biology. METHODS: Forty-four participants with TBDs (31 dyskeratosis congenita, 12...

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Detalles Bibliográficos
Autores principales:	Bhala, Sonia, Best, Ana F., Giri, Neelam, Alter, Blanche P., Pao, Maryland, Gropman, Andrea, Baker, Eva H., Savage, Sharon A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer 2019
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6878838/ https://www.ncbi.nlm.nih.gov/pubmed/31872047 http://dx.doi.org/10.1212/NXG.0000000000000370

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