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Prenatal diagnosis of harlequin ichthyosis

✍ Scribed by Sherman Elias; Michael Mazur; Rudy Sabbagha; Nancy B. Esterly; Joe Leigh Simpson


Book ID
119838985
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
529 KB
Volume
17
Category
Article
ISSN
0009-9163

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Harlequin ichthyosis (HI) is an extremely severe and usually fatal congenital keratinization disorder whose responsible genes have not yet been identified. For prenatal diagnosis, the fetal skin biopsy is the only available method and has been usually performed at 21 to 22 weeks' estimated gestation

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