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• W2000671905 abstract "Harlequin ichthyosis (HI) is a severe and usually fatal congenital ichthyosis with an autosomal recessive inheritance pattern. Until the identification of ABCA12 as the causative gene, prenatal diagnosis (PND) for HI had been performed by electronmicroscopic observation of fetal skin biopsy samples. We report herein a case of DNA-based prenatal exclusion of HI. We performed PND by direct sequence analysis and restriction enzyme digestion analysis using fetal genomic DNA from amniotic fluid cells at 16 weeks' gestation. This study demonstrates the efficacy of early DNA-based exclusion of HI. Harlequin ichthyosis (HI) is a severe and usually fatal congenital ichthyosis with an autosomal recessive inheritance pattern. Until the identification of ABCA12 as the causative gene, prenatal diagnosis (PND) for HI had been performed by electronmicroscopic observation of fetal skin biopsy samples. We report herein a case of DNA-based prenatal exclusion of HI. We performed PND by direct sequence analysis and restriction enzyme digestion analysis using fetal genomic DNA from amniotic fluid cells at 16 weeks' gestation. This study demonstrates the efficacy of early DNA-based exclusion of HI." @default.
• W2000671905 created "2016-06-24" @default.
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• W2000671905 date "2008-04-01" @default.
• W2000671905 modified "2023-10-16" @default.
• W2000671905 title "DNA-based prenatal exclusion of harlequin ichthyosis" @default.
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• W2000671905 doi "https://doi.org/10.1016/j.jaad.2007.12.018" @default.
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