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Niikawa-Kuroki (Kabuki make-up) syndrome

✍ Scribed by Mulvihill, John J. ;Kaiser-Kupfer, Muriel I.


Publisher
John Wiley and Sons
Year
1989
Tongue
English
Weight
108 KB
Volume
33
Category
Article
ISSN
0148-7299

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Autosomal dominant inheritance of the Ka
✍ Halal, Fahed ;Gledhill, Robert ;Dudkiewicz, Aaron πŸ“‚ Article πŸ“… 1989 πŸ› John Wiley and Sons 🌐 English βš– 524 KB

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 occurrenc

Inheritance of Niikawa-Kuroki (Kabuki ma
✍ Silengo, Margherita; Lerone, Margherita; Seri, Marco; Romeo, Giovanni πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 89 KB

Kobayashi and Sakuragawa [ 19961 recently reported on a familial case of Niikawa-Kuroki (Kabuki makeup) syndrome, suggesting autosomal-dominant inheritance. Another family demonstrating autosomaldominant inheritance was described by Halal et al. [ 19801. In both reports, significant intrafamilial v