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National Institutes of Health
MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY
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Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures.
American journal of human genetics
Corpus ID: 31617394
Progressive microcephaly is a heterogeneous condition with causes including mutations in genes encoding regulators of neuronal…
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