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The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders

Background: Neurodevelopmental disorders comprise a clinically and genetically heterogeneous group of conditions that affect 2%–5% of children and represents a public health challenge due to complexity of the etiology. Only few patients with unexplained syndromic and non-syndromic NDDs receive a dia...

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Detalles Bibliográficos
Autores principales: Mellone, Simona, Puricelli, Chiara, Vurchio, Denise, Ronzani, Sara, Favini, Simone, Maruzzi, Arianna, Peruzzi, Cinzia, Papa, Amanda, Spano, Alice, Sirchia, Fabio, Mandrile, Giorgia, Pelle, Alessandra, Rasmini, Paolo, Vercellino, Fabiana, Zonta, Andrea, Rabbone, Ivana, Dianzani, Umberto, Viri, Maurizio, Giordano, Mara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9403311/
https://www.ncbi.nlm.nih.gov/pubmed/36035117
http://dx.doi.org/10.3389/fgene.2022.875182