Case Reports
doi: 10.1002/ajmg.1320330317.
Autosomal dominant inheritance of the Kabuki make-up (Niikawa-Kuroki) syndrome
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- PMID: 2801772
- DOI: 10.1002/ajmg.1320330317
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Case Reports
Autosomal dominant inheritance of the Kabuki make-up (Niikawa-Kuroki) syndrome
Am J Med Genet.
1989 Jul.
Abstract
We report on three individuals (two sibs and their father) with the Kabuki make-up syndrome. The two sibs had congenital dislocation of the hips and all three individuals had short stature and the facial characteristics of the syndrome. To our knowledge this is the first report of familial occurrence of the Kabuki make-up syndrome.
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