Autosomal dominant inheritance of the Kabuki make-up (Niikawa-Kuroki) syndrome.
作者信息
Halal F, Gledhill R, Dudkiewicz A
机构信息
Division of Medical Genetics, Montreal Children's Hospital, McGill University, Quebec, Canada.
出版信息
Am J Med Genet. 1989 Jul;33(3):376-81. doi: 10.1002/ajmg.1320330317.
PMID:2801772
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.
摘要
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