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Isolated lissencephaly type 1 without known genetic defect
- ... some of the body's cells, a situation known as mosaicism. PAFAH1B1 gene mutations that occur in all of the body's cells (germline mutations) usually cause isolated lissencephaly sequence (described above). More About This Health Condition A deletion of genetic material near the end of the short (p) ...
- ... Germline and somatic mutations in cortical malformations: Molecular defects in ... Molecular genetics of neuronal migration disorders. Curr Neurol Neurosci Rep. ...