Encephalopathies with intracranial calcification in children: clinical and genetic characterization

BACKGROUND: We present a group of patients affected by a paediatric onset genetic encephalopathy with cerebral calcification of unknown aetiology studied with Next Generation Sequencing (NGS) genetic analyses. METHODS: We collected all clinical and radiological data. DNA samples were tested by means...

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Detalles Bibliográficos
Autores principales: Tonduti, Davide, Panteghini, Celeste, Pichiecchio, Anna, Decio, Alice, Carecchio, Miryam, Reale, Chiara, Moroni, Isabella, Nardocci, Nardo, Campistol, Jaume, Garcia-Cazorla, Angela, Perez Duenas, Belen, Chiapparini, Luisa, Garavaglia, Barbara, Orcesi, Simona
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6094574/
https://www.ncbi.nlm.nih.gov/pubmed/30111349
http://dx.doi.org/10.1186/s13023-018-0854-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6094574/
https://www.ncbi.nlm.nih.gov/pubmed/30111349
http://dx.doi.org/10.1186/s13023-018-0854-y

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