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Kids with Kabuki Syndrome

Notice: This site is no longer being actively maintained. While much of the information is still relevant, some of it has become out-of-date.

There are several Facebook groups. Just search "Kabuki syndrome" from within Facebook.

For a current site see one of the following:

http://allthingskabuki.org
https://www.kabukisyndromefoundation.org

Dr. Yoshikazu Kuroki

1981

Kuroki Y, Suzuki Y, Chyo H, Hata A, Matsui I. "A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation." J. Pediatr.. 1981;99(4):570-3. Abstract

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1982

Niikawa N, Kuroki Y, Kajii T. "The dermatoglyphic pattern of the Kabuki make-up syndrome." Clin. Genet.. 1982;21(5):315-20. Abstract

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1988

Niikawa N, Kuroki Y, Kajii T, et al. "Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients." Am. J. Med. Genet.. 1988;31(3):565-89. Abstract

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1992

Matsumura M, Yamada R, Kitani Y, et al. "Anorectal anomalies associated with Kabuki make-up syndrome." J. Pediatr. Surg.. 1992;27(12):1600-2. Abstract

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1997

Tsukahara M, Kuroki Y, Imaizumi K, Miyazawa Y, Matsuo K. "Dominant inheritance of Kabuki make-up syndrome." Am. J. Med. Genet.. 1997;73(1):19-23. Abstract

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2003

Ogawa A, Yasumoto S, Tomoda Y, Ohfu M, Mitsudome A, Kuroki Y. "Favorable seizure outcome in Kabuki make-up syndrome associated with epilepsy." J. Child Neurol.. 2003;18(8):549-51. Abstract

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