Dominant inheritance of Kabuki make-up syndrome.
|Title||Dominant inheritance of Kabuki make-up syndrome.|
|Publication Type||Journal Article|
|Year of Publication||1997|
|Authors||Tsukahara M, Kuroki Y, Imaizumi K, Miyazawa Y, Matsuo K|
|Journal||American journal of medical genetics|
|Date Published||1997 Nov 28|
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.
|Alternate Journal||Am. J. Med. Genet.|