Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene-Reference-Cited by-同舟云学术

Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene

Published:2018-03-24 Issue:3 Volume:6 Page:393-400
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

van der Schoot Vyne¹^ORCID,de Munnik Sonja²,Venselaar Hanka³,Elting Mariet⁴,Mancini Grazia M. S.⁵,Ravenswaaij-Arts Conny M. A.⁶,Anderlid Britt-Marie⁷,Brunner Han G.¹²,Stevens Servi J. C.¹^ORCID

Affiliation:

1. Department of Clinical Genetics; Maastricht University Medical Centre; Maastricht the Netherlands

2. Department of Human Genetics; Radboud University Medical Centre Nijmegen; Nijmegen the Netherlands

3. Centre for Molecular and Biomolecular Informatics (CMBI); Radboud University Medical Centre Nijmegen; Nijmegen the Netherlands

4. Department of Clinical Genetics; Vrije Universiteit; Amsterdam the Netherlands

5. Department of Clinical Genetics; Erasmus MC University Medical Centre; Rotterdam the Netherlands

6. University of Groningen; University Medical Centre Groningen; Department of Genetics; Groningen the Netherlands

7. Department of Clinical Genetics; Karolinska Universitetssjukhuset; Solna Sweden

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

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4. De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities;American Journal of Medical Genetics Part A;2023-09-25

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