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

doi:10.1016/j.pediatrneurol.2020.07.014

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

Clinical Genetics

Research output: Contribution to journal › Article › Academic › peer-review

8 Citations (Scopus)

24 Downloads (Pure)

Original language	English
Pages (from-to)	26-32
Number of pages	7
Journal	Pediatric Neurology
Volume	113
DOIs	https://doi.org/10.1016/j.pediatrneurol.2020.07.014
Publication status	Published - 2020

Research programs

EMC OR-01

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

Access to Document

10.1016/j.pediatrneurol.2020.07.014

Repub_133686_O-A.pdfFinal published version, 604 KB

http://hdl.handle.net/1765/133686

Cite this

Garrelfs, MR., Takada, S., Kamsteeg, EJ., Pegge, S., Verheijen - Mancini, G., Engelen, M., van de Warrenburg, B., Rennings, A., van Gaalen, J., Peters, I., Weemaes, C., Burg, M., & Willemsen, M. (2020). The Phenotypic Spectrum of PNKP-Associated Disease and the Absence of Immunodeficiency and Cancer Predisposition in a Dutch Cohort. Pediatric Neurology, 113, 26-32. https://doi.org/10.1016/j.pediatrneurol.2020.07.014

@article{3d526d6faab84e2f89c5b8f8e057300e,

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

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

year = "2020",

doi = "10.1016/j.pediatrneurol.2020.07.014",

language = "English",

volume = "113",

pages = "26--32",

journal = "Pediatric Neurology",

issn = "0887-8994",

publisher = "Elsevier Inc.",

}

Garrelfs, MR, Takada, S, Kamsteeg, EJ, Pegge, S, Verheijen - Mancini, G, Engelen, M, van de Warrenburg, B, Rennings, A, van Gaalen, J, Peters, I, Weemaes, C, Burg, M & Willemsen, M 2020, 'The Phenotypic Spectrum of PNKP-Associated Disease and the Absence of Immunodeficiency and Cancer Predisposition in a Dutch Cohort', Pediatric Neurology, vol. 113, pp. 26-32. https://doi.org/10.1016/j.pediatrneurol.2020.07.014

TY - JOUR

T1 - The Phenotypic Spectrum of PNKP-Associated Disease and the Absence of Immunodeficiency and Cancer Predisposition in a Dutch Cohort

AU - Garrelfs, MR

AU - Takada, S

AU - Kamsteeg, EJ

AU - Pegge, S

AU - Verheijen - Mancini, Grazia

AU - Engelen, M

AU - van de Warrenburg, B

AU - Rennings, A

AU - van Gaalen, J

AU - Peters, I

AU - Weemaes, C

AU - Burg, M

AU - Willemsen, M

PY - 2020

Y1 - 2020

U2 - 10.1016/j.pediatrneurol.2020.07.014

DO - 10.1016/j.pediatrneurol.2020.07.014

M3 - Article

C2 - 32980744

SN - 0887-8994

VL - 113

SP - 26

EP - 32

JO - Pediatric Neurology

JF - Pediatric Neurology

ER -