Kabuki make-up (Niikawa-Kuroki) syndrome: Clinical and radiological observations in two sicilian children

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 · 534 citations

Developmental Anomaly, Developmental Biology, Protruding Ears +6

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 · 451 citations

Developmental Anomaly, Thumb Hypoplasia, New Malformation Syndrome +7

Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias

Hooshang Taybi, Ralph S. Lachman, David F. Merten · Investigative Radiology · 1993 · 449 citations

Metabolic Disorder, Genetic Epidemiology, Diagnosis +23

Autosomal dominant inheritance of the Kabuki make‐up (Niikawa‐Kuroki) syndrome

Fahed Halal, Robert B. Gledhill, Aaron Dudkiewicz · American Journal of Medical Genetics · 1989 · 96 citations

Precocious puberty in Kabuki makeup syndrome

Yoshikazu Kuroki, Noriyuki Katsumata, Tsuyako Eguchi et al. · The Journal of Pediatrics · 1987 · 47 citations

Developmental Biology, Puberty, Morphogenesis +5