Article
Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes.
American journal of human genetics - 1 Sept 2000
Gleeson J G, Minnerath S, Kuzniecky R I, Dobyns W B, Young I D, Ross M E, Walsh C A
Abstract excerpt
Mutations in the X-linked gene doublecortin lead to "double cortex" syndrome (DC) in females and to X-linked lissencephaly (XLIS) in males. Because most patients with DC and XLIS are sporadic, representing de novo doublecortin mutations, we considered that some of these patients could be somatic or germline mosaics. Among a population of 20 patients and their families, we found evidence for mosaic doublecortin...
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