Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients.
Christian StaufnerBianca PetersMatias WagnerSeham AlameerIvo BarićPierre BrouéDerya BulutJoseph A ChurchEllen CrushellBuket DalgıçAnibh M DasAnke DickNicola DikowCarlo Dionisi-ViciFelix DistelmaierNeslihan Ekşi BozbulutFrançois FeilletEmmanuel GonzalesNedim HadzicFabian HauckRobert HegartyMaja HempelTheresia HergetChristoph KleinVassiliki KonstantopoulouRobert KopajtichAlice KusterMartin W LaassElke LainkaCatherine Larson-NathAlexander LeibnerEberhard LurzJohannes A MayrPatrick McKiernanKarine MentionUte MoogNeslihan Onenli MunganKorbinian M RiedhammerRené SanterIrene Valenzuela PalafollJerry VockleyDominik S WestphalArnaud WiedemannSaskia B WortmannGaurav D DiwanRobert B RussellHolger ProkischSven F GarbadeStefan KölkerGeorg F HoffmannDominic LenzPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2019)
We define clinical subgroups of NBAS-associated disease that can guide patient management and point to domain-specific functions of NBAS.