BRAT1 Mutation: The First Reported Case of Chinese Origin and Review of the Literature.
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DOI: 10.1093/jnen/nly093
Abstract: Lethal neonatal rigidity and multifocal seizure syndrome (RMFSL) (OMIM#614498) is caused by homozygous or compound heterozygous mutation in the BRAT1 gene (OMIM#614506) on chromosome 7p22. We report a newborn female infant born to non-consanguineous Chinese… read more here.
Keywords: first reported; brat1; reported case; case chinese ... See more keywords