Encephalopathies with intracranial calcification in children: clinical and genetic characterization

Encephalopathies with intracranial calcification in children: clinical and genetic characterization

Abstract 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 b...

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Bibliographic Details
Main Authors: Davide Tonduti, Celeste Panteghini, Anna Pichiecchio, Alice Decio, Miryam Carecchio, Chiara Reale, Isabella Moroni, Nardo Nardocci, Jaume Campistol, Angela Garcia-Cazorla, Belen Perez Duenas, Cerebral Calcification International Study Group, Luisa Chiapparini, Barbara Garavaglia, Simona Orcesi
Format: Article
Language:English
Published: BMC 2018-08-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Cerebral calcification
Leukodystrophy
Aicardi-Goutières syndrome
Next generation sequencing
Online Access:http://link.springer.com/article/10.1186/s13023-018-0854-y

Internet

http://link.springer.com/article/10.1186/s13023-018-0854-y

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