Associated Papers
Compound Heterozygous PNKP Variants Causing Developmental and Epileptic Encephalopathy with Severe Microcephaly: Natural History of Two New Cases and Literature Review.
Ragona F et al.
Neurosci, 2025
B-cell immunodeficiency associated with polynucleotide kinase 3'-phosphatase (PNKP) deficiency.
Takada S et al.
The Journal of Allergy and Clinical Immunology. Global, 2025
Mutational survivorship bias: The case of PNKP.
Bermúdez-Guzmán L et al.
Plos One, 2020
From congenital microcephaly to adult onset cerebellar ataxia: Distinct and overlapping phenotypes in patients with PNKP gene mutations.
Gatti M et al.
American Journal of Medical Genetics. Part A, 2019
Two patients with PNKP mutations presenting with microcephaly, seizure, and oculomotor apraxia.
Taniguchi-Ikeda M et al.
Clinical Genetics, 2018
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