Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy.

Sarah DuerinckxJulie DésirCamille PerazzoloCindy BadoerValérie JacqueminJulie SobletIsabelle MaystadtYusuf TuncaBettina BlaumeiserBerten CeulemansWinnie CourtensFrançois-Guillaume DebrayAnne DestreeKoenraad DevriendtAnna JansenKathelijn KeymolenDamien LedererBart LoeysMarije MeuwissenStephanie MoortgatGeert MortierMarie-Cécile NassogneTayeb SekharaRudy Van CosterJenny Van Den EndeNathalie Van der AaHilde Van EschOlivier VanakkerHelene VerhelstCatheline VilainSarah WeckhuysenSandrine PassemardAlain VerloesAlec AebyNicolas DeconinckPatrick Van BogaertIsabelle Pirson Marc Abramowicz

Published in: Molecular genetics & genomic medicine (2021)

Our findings will help to prioritize genomic investigations, accelerate molecular diagnoses, and improve the management of PM patients.

Keyphrases

end stage renal disease
newly diagnosed
zika virus
chronic kidney disease
prognostic factors
peritoneal dialysis
intellectual disability
air pollution
copy number
gene expression
risk assessment
dna methylation
patient reported