Encephalopathies with intracranial calcification in children: clinical and genetic characterization
Encephalopathies with intracranial calcification in children: clinical and genetic characterization
About this item
Full title
Author / Creator
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 and Cerebral Calcification International Study Group
Publisher
England: BioMed Central Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: BioMed Central Ltd
Subjects
More information
Scope and Contents
Contents
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.
We collected all clinical and radiological data. DNA samples were tested by means of a customized gene panel including fifty-nine genes associated wi...
Alternative Titles
Full title
Encephalopathies with intracranial calcification in children: clinical and genetic characterization
Authors, Artists and Contributors
Author / Creator
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_11b85c2596e742bb992fba6b32048603
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_11b85c2596e742bb992fba6b32048603
Other Identifiers
ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-018-0854-y
