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- W1791409850 abstract "We describe a novel mutation in DCX in a family in which a proband boy had classical lissencephaly and his mother had extremely mild subcortical band heterotopia. No factors that would make the mother's symptoms milder, such as somatic mosaicism or skewed X chromosome inactivation, were observed. From this family, we conclude that a DCX mutation causes a pleiotropic phenotype in the female even if X chromosome inactivation pattern is not skewed, and the novel missense mutation in DCX produced relatively mild dysfunction of the doublecortin protein." @default.
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- W1791409850 date "2015-04-01" @default.
- W1791409850 modified "2023-09-26" @default.
- W1791409850 title "NovelDCXmutation-caused lissencephaly in a boy and very mild heterotopia in his mother" @default.
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- W1791409850 doi "https://doi.org/10.1111/ped.12502" @default.
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