Trichothiodystrophy due to <i>ERCC2</i> Variants: Uncommon Contributor to Progressive Hypomyelinating Leukodystrophy
The identification of hypomyelination in TTD due to ERCC2 sheds a light on the molecular diagnosis and contributing to the limited literature on ERCC2 variants and associated hypomyelinating leukodystrophy in patients with TTD.
Authors
- Morteza Heidari (ORCID: https://orcid.org/0000-0002-7487-569X)
- Pouria Mohammadi (ORCID: https://orcid.org/0000-0002-7753-0910)
- Kara Stuart Lewis (ORCID: https://orcid.org/0000-0001-5410-6394)
- Mahmoud Reza Ashrafi (ORCID: https://orcid.org/0000-0001-5483-6549)
- Maedeh Ganji (ORCID: https://orcid.org/0000-0001-5434-6523)
- Seyyed Mohammad Kahani (ORCID: https://orcid.org/0000-0002-8242-5349)
- Ali Reza Tavasoli (ORCID: https://orcid.org/0000-0003-0440-5809)
- Arastoo Kaki (ORCID: https://orcid.org/0000-0002-8182-441X)
- Foozhan Radmehr
Institutions
- Hamedan University of Medical Sciences (IR)
- Barrow Neurological Institute (US)
- Tarbiat Modares University (IR)
- Children's Medical Center (IR)
- National Institute of Genetic Engineering and Biotechnology (IR)
- Tehran University of Medical Sciences (IR)
Publication Details
- Journal
- Molecular Genetics & Genomic Medicine
- Published
- 2025-02-01
- DOI
- https://doi.org/10.1002/mgg3.70067
- Citations
- 2
- Primary Topic
- RNA regulation and disease
- Type
- article
- Field-Weighted Citation Impact
- 1.61