Ontology highlight
ABSTRACT:
SUBMITTER: Gawlinski P
PROVIDER: S-EPMC5125779 | biostudies-literature | 2016 Jul
REPOSITORIES: biostudies-literature
Gawlinski Pawel P Posmyk Renata R Gambin Tomasz T Sielicka Danuta D Chorazy Monika M Nowakowska Beata B Jhangiani Shalini N SN Muzny Donna M DM Bekiesinska-Figatowska Monika M Bal Jerzy J Boerwinkle Eric E Gibbs Richard A RA Lupski James R JR Wiszniewski Wojciech W
Pediatric neurology 20160409
<h4>Background</h4>Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy (PEHO) syndrome is a distinct neurodevelopmental disorder. Patients without optic nerve atrophy and brain imaging abnormalities but fulfilling other PEHO criteria are often described as a PEHO-like syndrome. The molecular bases of both clinically defined conditions remain unknown in spite of the widespread application of genome analyses in both clinic and research.<h4>Methods</h4>We enrolled two patients w ...[more]