title: DNA-based prenatal exclusion of bullous congenital ichthyosiform erythroderma at the early stage, 10 to 11 weeks' of pregnancy, in two consequent siblings.
abstract: The proband was a Japanese woman with bullous congenital ichthyosiform erythroderma harboring a keratin 10 gene mutation M150T. DNA-based prenatal exclusion of bullous congenital ichthyosiform erythroderma was successfully performed in her two consequent pregnancies using chorionic villus samples at 10 to 11 weeks' gestation, several weeks earlier than the previously reported cases.
authors.affiliation: Department of Dermatology at Hokkaido University Graduate School of Medicine, Sapporo, Japan.
authors.forename: Yukiko
authors.initials: Y
authors.lastname: Tsuji-Abe
authors.forename: Masashi
authors.initials: M
authors.lastname: Akiyama
authors.forename: Hideki
authors.initials: H
authors.lastname: Nakamura
authors.forename: Yasuko
authors.initials: Y
authors.lastname: Takizawa
authors.forename: Daisuke
authors.initials: D
authors.lastname: Sawamura
authors.forename: Kayoko
authors.initials: K
authors.lastname: Matsunaga
authors.forename: Kaoru
authors.initials: K
authors.lastname: Suzumori
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Shimizu
mesh_terms: D000328:Adult; D015193:Chorionic Villi Sampling; D004252:DNA Mutational Analysis; D005260:Female; D005820:Genetic Testing; D006801:Humans; D017488:Hyperkeratosis, Epidermolytic / Q000175:diagnosis* / Q000235:genetics*; D053550:Keratin-10; D007633:Keratins / Q000235:genetics; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D035781:Siblings
chemical_list: C507493:KRT10 protein, human; D053550:Keratin-10; D007633:Keratins