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The Kabuki make-up (Niikawa-Kuroki) syndrome and isolated transient hyperphosphatasemia

✍ Scribed by Koen Devriendt; Jean-Pierre Fryns


Book ID
115091532
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
116 KB
Volume
45
Category
Article
ISSN
0009-9163

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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