A Japanese patient with Kabuki syndrome and unilateral perisylvian cortical dysplasia

Kabuki make-up syndrome: A syndrome of mentalretardation, unusual facies, large and protruding ears, and postnatal growth deficiency

Norio Niikawa, Nobuo Matsuura, Yoshimitsu Fukushima et al. · The Journal of Pediatrics · 1981 · 544 citations

Medicine, Human Development, Pediatrics +15

A new malformation syndrome of long palpebralfissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation

Yoshikazu Kuroki, Yasuyuki Suzuki, Hiroyuki Chyo et al. · The Journal of Pediatrics · 1981 · 461 citations

Medicine, Pediatrics, Human Genetics +11

The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients

C. T. R. M. Schrander‐Stumpel, Peter Meinecke, Golder N. Wilson et al. · European Journal of Pediatrics · 1994 · 119 citations

Life Sciences, Genetics, Molecular Genetics +4

Thirteen cases of Niikawa-Kuroki Syndrome: Report and review with emphasis on medical complications and preventive management

Golder N. Wilson · American Journal of Medical Genetics · 1998 · 76 citations

Medicine, Neurology, Neurotology +12

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

Giancarlo Di Gennaro, Claudia Condoluci, Carlo Casali et al. · Pediatric Neurology · 1999 · 46 citations

Medicine, Neurology, Neuroscience +12