Neurodevelopmental disorder with dystonia due to <scp>SOX6</scp> mutations-Reference-Cited by-同舟云学术

Neurodevelopmental disorder with dystonia due to SOX6 mutations

Published:2022-09-07 Issue:12 Volume:10 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Schneider Susanne A.¹^ORCID,Mueller Christine²,Biskup Saskia³,Fietzek Urban M.¹⁴,Schroeder Andreas Sebastian²

Affiliation:

1. Department of Neurology University Hospital, Ludwig Maximilians Universität Munich Germany

2. Department of Pediatric Neurology, Developmental Medicine, Social Pediatrics, Dr. von Hauner Children's Hospital LMU ‐ University Hospital, Ludwig Maximilians Universität Munich Germany

3. Center for Genomics and Transcriptomics CeGaT GmbH and Praxis für Humangenetik Tübingen Tübingen Germany

4. Department of Neurology and Clinical Neurophysiology Schön Klinik München Schwabing Munich Germany

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.2051

Reference18 articles.

1. SOXopathies: Growing Family of Developmental Disorders Due to SOX Mutations

2. Reflections on the genetics-first approach to advancements in molecular genetic and neurobiological research on neurodevelopmental disorders

3. AParkinson's disease gene, DJ-1, repairs brain injury through Sox9 stabilization and astrogliosis

4. How does genetic variation modify ND-CNV phenotypes?

5. Disruption of SOX6 Is Associated With a Rapid-Onset Dopa-Responsive Movement Disorder, Delayed Development, and Dysmorphic Features

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