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Biallelic SOX8 Variants Associated with Novel Syndrome with Myopathy, Skeletal Deformities, Intellectual Disability, and Ovarian Dysfunction

Document Type

Article

Author

Warman-Chardon, J.; Bourque, P.R.; Breiner, A.; Lochmüller, H.; Woulfe, J.; Sampaio, M.L.; Melkus, G.; Dyment, D.A.; Boycott, K.M.; Hartley, T.; Marshall, A.E.; McBride, A.; Kernohan, K.; Couse, M.; Macdonald, W.; Mann, M.R.W.; Brais, B.

Source

In: Neurology: Genetics. (Neurology: Genetics, 19 October 2023, 9(5))

Subject

Language

English

ISSN

23767839

Online Access

Full Text (LWW Journals - Ovid) Full Text (LWW total - Ovid) Open Access (EBSCO) Web of Science JCR 저널정보 Scopus Find it@PNU

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