2024
DOI: 10.1002/ajmg.b.33013
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Characterization of Two Novel PNKP Splice‐Site Variants in a Proband With Microcephaly, Intellectual Disability, and Multiple Malformations

Ugo Sorrentino,
Elisa Baschiera,
Maria Andrea Desbats
et al.

Abstract: Polynucleotide kinase phosphatase (PNKP), encoded by the PNKP gene, is a DNA processing enzyme involved in double‐strand break and single‐strand break repair pathways, which are essential for genome stability and for the correct development and maintenance of human nervous system. PNKP biallelic loss‐of‐function variants have been associated with a broad spectrum of neurological anomalies, ranging from congenital microcephaly with intellectual disability and seizures (MCSZ), to later onset forms of ataxia‐ocul… Show more

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