Autor: Abdel-Salam, G. M. H., Abdel-Hamid, M. S., Abdel-Ghafar, S. F., Girgis, M., Zaki, M. S.
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Refining the phenotypic spectrum of PNKP-related microcephaly: a study of 27 new patients
Background Biallelic pathogenic variants in PNKP are associated with microcephaly and early-onset seizures (MCSZ), ataxia with oculomotor apraxia type 4 and Charcot-Marie-Tooth disease type 2B2. Methods We describe the clinical and neuroimaging featu…