Article
The Phenotypic Spectrum of PNKP-Associated Disease and the Absence of Immunodeficiency and Cancer Predisposition in a Dutch Cohort.
Pediatric neurology - 1 Dec 2020
Garrelfs Mark R, Takada Sanami, Kamsteeg Erik-Jan, Pegge Sjoert, Mancini Grazia, Engelen Marc, van de Warrenburg Bart, Rennings Alexander, van Gaalen Judith, Peters Ivo, Weemaes Corry, van der Burg Mirjam, Willemsen Michèl A
Abstract excerpt
BACKGROUND: We aimed to expand the number of currently known pathogenic PNKP mutations, to study the phenotypic spectrum, including radiological characteristics and genotype-phenotype correlations, and to assess whether immunodeficiency and increased cancer risk are part of the DNA repair disorder caused by mutations in the PNKP gene. METHODS: We evaluated nine patients with PNKP mutations. A neurological history...
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