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Results 1 - 4 of 4 for Kabuki syndrome 1
  1. Kabuki syndrome 
    ... syndrome KMS Niikawa-Kuroki syndrome Genetic Testing Registry: Kabuki syndrome 1 Genetic Testing Registry: Kabuki syndrome 2 Kabuki syndrome National Organization for Rare Disorders (NORD) ClinicalTrials.gov KABUKI SYNDROME 1; KABUK1 KABUKI SYNDROME 2; KABUK2 PubMed Adam MP, ...
    https://medlineplus.gov/genetics/condition/kabuki-syndrome - Genetics
  2. KDM6A gene 
    ... Niikawa N, Matsumoto N. KDM6A point mutations cause Kabuki syndrome. Hum Mutat. 2013 Jan;34(1):108-10. doi: 10.1002/humu.22229. Epub ...
    https://medlineplus.gov/genetics/gene/kdm6a - Genetics
  3. Patient support and advocacy groups 
    ... Connect Alex - The Leukodystrophy Charity AliveAndKickn All Things Kabuki Alpha-1 Advocacy Alliance Alpha-1 Foundation Alstrom Syndrome International Alzheimer's Association Alzheimer's and Related Dementias Education ...
    https://medlineplus.gov/about/general/genetics/supportadvocacygroups -
  4. Developmental Disabilities (National Library of Medicine)  
    Developmental disabilities are severe, long-term problems. They may be physical, such as blindness. They may affect mental ability, such as learning disabilities. ...
    https://medlineplus.gov/developmentaldisabilities.html - Health Topics