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A novel homozygous nonsense variant in COL12A1 causes myopathic Ehlers-Danlos syndrome: A case report and literature review.
- Source :
-
Neuropathology and applied neurobiology [Neuropathol Appl Neurobiol] 2024 Aug; Vol. 50 (4), pp. e13004. - Publication Year :
- 2024
Details
- Language :
- English
- ISSN :
- 1365-2990
- Volume :
- 50
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- Neuropathology and applied neurobiology
- Publication Type :
- Academic Journal
- Accession number :
- 39087360
- Full Text :
- https://doi.org/10.1111/nan.13004