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 |
| Volume | 73 |
| Issue | 1 |
| Pagination | 19-23 |
| Date Published | 1997 Nov 28 |
| 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. |
| Alternate Journal | Am. J. Med. Genet. |
| Citation Key | 9375917 |
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