Kabuki's mask syndrome is a rare developmental disease. Most cases are sporadic. Diagnosis is based on five criteria, including slight mental delay slight, skeletal abnormalities, dermatological alterations, slow stature, and typical fascies. We describe,the first diagnostic case of Kabuki's syndrome in our country.
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Osaka Womens & Childrens Hosp, Dept Med Genet, Osaka, JapanOsaka Womens & Childrens Hosp, Dept Med Genet, Osaka, Japan
Nishi, Eriko
Miyake, Noriko
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Natl Ctr Global Hlth & Med, Res Inst, Dept Human Genet, Tokyo, Japan
Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa, JapanOsaka Womens & Childrens Hosp, Dept Med Genet, Osaka, Japan
Miyake, Noriko
Hosoki, Kana
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Osaka Womens & Childrens Hosp, Dept Mol Med, Osaka, JapanOsaka Womens & Childrens Hosp, Dept Med Genet, Osaka, Japan
Hosoki, Kana
Hasegawa, Yuiko
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Osaka Womens & Childrens Hosp, Dept Med Genet, Osaka, JapanOsaka Womens & Childrens Hosp, Dept Med Genet, Osaka, Japan
Hasegawa, Yuiko
Matsumoto, Naomichi
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Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa, JapanOsaka Womens & Childrens Hosp, Dept Med Genet, Osaka, Japan
Matsumoto, Naomichi
Okamoto, Nobuhiko
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Osaka Womens & Childrens Hosp, Dept Med Genet, Osaka, JapanOsaka Womens & Childrens Hosp, Dept Med Genet, Osaka, Japan