Medical Publications 

1981  |  A New Malformation Syndrome of long palpebral fissures … (Kuroki: 1981)

1981  |  Kabuki make-up syndrome … (Niikawa 1981)

1988  |  Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients

 

2003  |  The Kabuki Syndrome: four patients with oral abnormalities

2003  |  Coloboma and other Ophthalmologic Anomalies in KS: Distinction from Charge Association

2010  |  Exome sequencing identifies MLL2 mutations as cause of KS.

2010  |  Genetic alterations common to KS discovered ...

2010  |  MLL2 Mutation Spectrum in 45 Patients with Kabuki Syndrome

2010  |  Management of Kabuki Syndrome: A Clinical Guideline

2012  |  Hypothalamic pituitary complications in Kabuki syndrome

2014  |   Autoimmune heaaematological disorders in two Italian children with Kabuki

2015  |  Kabuki syndrome genes KMT2D and KDM6A

2015  |  Intellectual Disability Treatments - Dr. Hans Bjornsson

2015  |  Insights into the molecular genetics of Kabuki syndrome

2015  |  Treatment for Intellectual Disabilities: Dr. Hans Bjornsson (You Tube Video)

2017  |  Taconic Biosciences Sponsors Custom Model to Support Kabuki Syndrome, a Rare Disorder Causing I.D.

2018  |  Kabuki syndrome: international consensus diagnostic criteria

2018  |  Growth Hormone Therapy in Kabuki Syndrome - D.A. Schott

2020 |  Using Exogenous βHB as an Epigenetic Modifier to Mitigate the Symptoms of Kabuki Syndrome

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All Things Kabuki (ATK) is a registered 501(c)3 non-profit corporation based out of Wasilla, Alaska. We are the only U.S. patient advocacy group supporting the Kabuki community globally. Our mission is to raise awareness, incite research, and support individuals and families affected by Kabuki Syndrome.
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