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Published in 2021 at "Neurology"
DOI: 10.1212/wnl.0000000000012445
Abstract: POLR3-related disorders are rare hypomyelinating leukodystrophies associated with hypodontia. We present a female patient, who was referred to pediatric neurology at 2 years of age for tremor, low tone, and motor delays. In addition, she…
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Keywords:
hypotonia delayed;
neurology hypotonia;
child neurology;
delayed teeth ... See more keywords