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Dominant inheritance of Kabuki make-up syndrome.

Authors
  • Tsukahara, M
  • Kuroki, Y
  • Imaizumi, K
  • Miyazawa, Y
  • Matsuo, K
Type
Published Article
Journal
American journal of medical genetics
Publication Date
Nov 28, 1997
Volume
73
Issue
1
Pages
19–23
Identifiers
PMID: 9375917
Source
Medline
License
Unknown

Abstract

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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