DNA-based prenatal exclusion of harlequin ichthyosis.

DNA-based prenatal exclusion of harlequin ichthyosis. Research Abstract Details 

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DNA-based prenatal exclusion of harlequin ichthyosis. Abstract Text:

Teruki Yanagi,Masashi Akiyama,Kaori Sakai,Akari Nagasaki,Nobuaki Ozawa,Rika Kosaki,Haruhiko Sago,Hiroshi Shimizu,

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.

DNA-based prenatal exclusion of harlequin ichthyosis. Publishing Authors By Initials

T Yanagi,M Akiyama,K Sakai,A Nagasaki,N Ozawa,R Kosaki,H Sago,H Shimizu,

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DNA-based prenatal exclusion of harlequin ichthyosis. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: Journal of the American Academy of Dermatology

VOLUME: 58

Page Numbers: 653-6

Journal Abbreviation: J. Am. Acad. Dermatol.

ISSN: 1097-6787

DAY: 8

MONTH: 02

YEAR: 2008

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LANGUAGE: eng

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AFFILIATION: Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan. yanagi@med.hokudai.ac.jp

Country: United States

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MEDLINETA: J Am Acad Dermatol

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