First report of the neuropathological findings in a patient with leukodystrophy and compound heterozygous variants in the PIGT gene
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DOI: 10.1111/nan.12557
Abstract: Leukodystrophies are rare inherited myelin disorders affecting the white matter of the central nervous system. In several leukodystrophies the underlying disease mechanism is well known but there is still a large group with undiscovered etiology.… read more here.
Keywords: heterozygous variants; variants pigt; report; neuropathological findings ... See more keywords