Why genetic testing is important in patients with developmental disabilities—a unique case of progressive hypertonia and chorea: <scp><i>VARS2</i></scp>‐related disorder-Reference-Cited by-同舟云学术

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Why genetic testing is important in patients with developmental disabilities—a unique case of progressive hypertonia and chorea: VARS2‐related disorder

Published:2024-08-23 Issue: Volume: Page:
ISSN:1934-1482
Container-title:PM&R
language:en
Short-container-title:PM&R

Author:

Strader Shannon¹²^ORCID,Vawter‐Lee Marissa³,Pena Loren⁴,Huxol Heather⁵,Harris Corrie⁵^ORCID

Affiliation:

1. Department of Neurosurgery, Division of Physical Medicine and Rehabilitation (through June 23, 2024) University of Louisville School of Medicine Louisville Kentucky USA

2. Department of Laboratory Medicine and Pathology, Cellular Therapy Fellowship (starting July 1, 2024) Mayo Clinic School of Graduate Medical Education Rochester Minnesota USA

3. Department of Pediatrics, Division of Neurology University of Cincinnati College of Medicine Cincinnati Ohio USA

4. Department of Pediatrics, Division of Human Genetics University of Cincinnati College of Medicine Cincinnati Ohio USA

5. Department of Pediatrics, Division of Pediatric Hospital Medicine University of Louisville School of Medicine and Norton Children's Hospital Louisville Kentucky USA

Publisher

Wiley

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/pmrj.13267

Reference10 articles.

1. U.S. Department of Health and Human Services.Mitochondrial disorders. National Institute of Neurological Disorders and Stroke. n.d.https://www.ninds.nih.gov/health-information/disorders/mitochondrial-disorders.

2. Clinical, biochemical, and genetic features associated with VARS2 -related mitochondrial disease

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