Is leucodystrophy really a feature of PIGT-CDG?
- PMID: 32058618
- DOI: 10.1111/nan.12609
Is leucodystrophy really a feature of PIGT-CDG?
Comment in
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Leukodystrophy as a feature of PIGT-CDG.Neuropathol Appl Neurobiol. 2020 Oct;46(6):617. doi: 10.1111/nan.12600. Epub 2020 May 4. Neuropathol Appl Neurobiol. 2020. PMID: 31998980 No abstract available.
Comment on
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First report of the neuropathological findings in a patient with leukodystrophy and compound heterozygous variants in the PIGT gene.Neuropathol Appl Neurobiol. 2019 Dec;45(7):732-735. doi: 10.1111/nan.12557. Epub 2019 Jun 10. Neuropathol Appl Neurobiol. 2019. PMID: 31021413 No abstract available.
References
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- Larsen KB, Bayat A, Møller RS, Maroun LL, Lund EL. First report of the neuropathological findings in a patient with leukodystrophy and compound heterozygous variants in the PIGT gene. Neuropathol Appl Neurobiol 2019; 45: 732-5
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- Bayat A, Knaus A, Juul AW, Dukic D, Gardella E, Charzewska A, et al. PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics. Genet Med 2019; 21: 2216-23
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