Independent occurrence of de novo HSPD1 and HIP1 variants in brothers with different neurological disorders – leukodystrophy and autism
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics,Molecular Biology,Biochemistry
Link
http://www.nature.com/articles/s41439-018-0020-z.pdf
Reference24 articles.
1. van der Knaap, M. S. & Bugiani, M. Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms. Acta Neuropathol. 134, 351–382 (2017).
2. Barkovich, A. J. & Deon, S. Hypomyelinating disorders: An MRI approach. Neurobiol. Dis. 87, 50–58 (2016).
3. Charzewska, A. et al. Hypomyelinating leukodystrophies—a molecular insight into the white matter pathology. Clin. Genet. 90, 293–304 (2016).
4. Ashrafi, M. R. & Tavasoli, A. R. Childhood leukodystrophies: a literature review of updates on new definitions, classification, diagnostic approach and management. Brain. Dev. 39, 369–385 (2017).
5. Lu, Y., Ondo, Y., Shimojima, K., Osaka, H. & Yamamoto, T. A novel TUBB4A mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyond adolescence. Hum. Genome Var. 4, 17035 (2017).
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