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Epilepsy and polymicrogyria in Kabuki make-up (Niikawa-Kuroki) syndrome

✍ Scribed by Giancarlo Di Gennaro; Claudia Condoluci; Carlo Casali; Olga Ciccarelli; Giorgio Albertini

Book ID: 117592083
Publisher: Elsevier Science
Year: 1999
Tongue: English
Weight: 185 KB
Volume: 21
Category: Article
ISSN: 0887-8994
DOI: 10.1016/s0887-8994(99)00030-2

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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