The Phenotypic Spectrum of PNKP-Associated Disease and the Absence of Immunodeficiency and Cancer Predisposition in a Dutch Cohort

MR Garrelfs, S Takada, EJ Kamsteeg, S Pegge, Grazia Verheijen - Mancini, M Engelen, B van de Warrenburg, A Rennings, J van Gaalen, I Peters, C Weemaes, M Burg, M Willemsen

Research output: Contribution to journalArticleAcademicpeer-review

8 Citations (Scopus)
24 Downloads (Pure)
Original languageEnglish
Pages (from-to)26-32
Number of pages7
JournalPediatric Neurology
Volume113
DOIs
Publication statusPublished - 2020

Research programs

  • EMC OR-01

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