EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum.
Ulrike HüffmeierCornelia KrausMiriam S ReuterSteffen UebeMary-Alice AbbottSyed A AhmedKristyn L RawsonEileen BarrHong LiAnge-Line BruelLaurence FaivreFrédéric Tran Mau-ThemChristina BottiSusan BrooksKaitlyn BurnsD Isum WardMarina Dutra-ClarkeJulian A Martinez-AgostoHane LeeStanley F Nelsonnull nullPia ZacherRami Abou JamraChiara KlöcknerJulie McGaughranJürgen KohlhaseSarah SchuhmannEllen MoranJohn PappasAnnick Raas-RothschildMaria J Guillen SacotoLindsay B HendersonTimothy Blake PalculictSureni V MullegamaHouda Zghal ElloumiAdi ReichSamantha A Schrier VerganoErica WahlAndré ReisChristiane ZweierPublished in: Orphanet journal of rare diseases (2021)
Our study refines the phenotypic and expands the molecular spectrum of EIF3F-related syndromic neurodevelopmental disorder.
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