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Published in 2017 at "Mechanisms of Development"
DOI: 10.1016/j.mod.2017.04.316
Abstract: Loss-of-function mutations in PYCR2 cause hypomyelinating leukodystrophy 10 (HLD10) (MIM: 616420) characterized by postnatal degenerative microcephaly, severely delayed psychomotor development, and hypomyelination. Here, we report 3 additional patients with a novel germline homozygous missense G249V,…
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Keywords:
mouse brain;
spontaneous calcium;
waves developing;
brain ... See more keywords