Ocular manifestations in Kabuki syndrome: the first report from Saudi Arabia

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

Unmasking Kabuki syndrome: chromosome 8p22–8p23.1 duplication revealed by comparative genomic hybridization and BAC‐FISH

JM Milunsky, XL Huang · Clinical Genetics · 2003 · 84 citations

Life Sciences, Genetics, Molecular Genetics +16

The Niikawa‐Kuroki (Kabuki make‐up) syndrome in a Moslem Arab child

Ruby M. E. Gillis, Aharon Klar, Eva Gross‐Kieselstein · Clinical Genetics · 1990 · 47 citations

Medicine, Pediatrics, Craniofacial Genetics +13

On the reported 8p22‐p23.1 duplication in Kabuki make‐up syndrome (KMS) and its absence in patients with typical KMS

Noriko Miyake, Naoki Harada, Osamu Shimokawa et al. · American Journal of Medical Genetics Part A · 2004 · 35 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12