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Dominant inheritance of Kabuki make-up syndrome

✍ Scribed by Tsukahara, Masato; Kuroki, Yoshikazu; Imaizumi, Kiyoshi; Miyazawa, Yoichiro; Matsuo, Kiyosato

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 25 KB
Volume: 73
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19971128)73:1<19::aid-ajmg5>3.0.co;2-k

No coin nor oath required. For personal study only.

✦ Synopsis

We report on a total of 4 individuals in 2 families with Kabuki make-up syndrome. In family 1, the proposita, a 2 4/12-year-old girl and her mother had typical Kabuki make-up syndrome. The proposita also had early breast development. In family 2, the proposita, a 6-month-old girl and her mother had typical Kabuki make-up syndrome. The proposita died at age 6 months.

Analysis of 2 families indicates that the condition is an autosomal dominant inheritance with variable expressivity.

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