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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.
Kivrak Pfiffner F, Koller S, Ménétrey A, Graf U, Bähr L, Maspoli A, Hackenberg A, Kottke R, Gerth-Kahlert C, Berger W. Kivrak Pfiffner F, et al. Among authors: menetrey a. Int J Mol Sci. 2022 Jul 2;23(13):7382. doi: 10.3390/ijms23137382. Int J Mol Sci. 2022. PMID: 35806387 Free PMC article.