The Phenotypic Spectrum of PNKP-Associated Disease and the Absence of Immunodeficiency and Cancer Predisposition in a Dutch Cohort-Reference-Cited by-同舟云学术

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

Published:2020-12 Issue: Volume:113 Page:26-32
ISSN:0887-8994
Container-title:Pediatric Neurology
language:en
Short-container-title:Pediatric Neurology

Author:

Garrelfs Mark R.^ORCID,Takada Sanami,Kamsteeg Erik-Jan,Pegge Sjoert,Mancini Grazia,Engelen Marc,van de Warrenburg Bart,Rennings Alexander,van Gaalen Judith^ORCID,Peters Ivo^ORCID,Weemaes Corry,van der Burg Mirjam,Willemsen Michèl A.

Publisher

Elsevier BV

Subject

Neurology (clinical),Developmental Neuroscience,Neurology,Pediatrics, Perinatology and Child Health

Reference37 articles.

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3. Monoallelic variation inDHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease;2023-03-05

4. Mutations of the DNA repair gene PNKP in a patient with microcephaly, seizures, and developmental delay (MCSZ) presenting with a high-grade brain tumor;Scientific Reports;2022-03-30

5. HLA ‐ matched related donor hematopoietic stem cell transplantation in a patient with polynucleotide kinase 3–phosphatase mutation developed acute myeloid leukemia;Pediatric Transplantation;2022-02-21