IJMS, Vol. 23, Pages 7382: Homozygosity for a Novel DOCK7 Variant Due to Segmental Uniparental Isodisomy of Chromosome 1 Associated with Early Infantile Epileptic Encephalopathy (EIEE) and Cortical Visual Impairment

Added 47 days ago (02.07.2022)

Authors: Fatma Kivrak Pfiffner; Samuel Koller; Anika Ménétrey; Urs Graf; Luzy Bähr; Alessandro Maspoli; Annette Hackenberg; Raimund Kottke; Christina Gerth-Kahlert; Wolfgang Berger