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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 While much of the information is still relevant, some of it has become out-of-date.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

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Publications

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Yang X-jing, Zeng Y, Xiong F. "[Kabuki syndrome case report]." Zhonghua Er Ke Za Zhi. 2010;48(11):868-70.
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Yang P, Tan H, Xia Y, et al. "De novo exonic deletion of KDM6A in a Chinese girl with Kabuki syndrome: A case report and brief literature review." Am. J. Med. Genet. A. 2016;170(6):1613-21. Abstract
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Yano S, Matsuishi T, Yoshino M, Kato H, Kojima K. "Cerebellar and brainstem "atrophy" in a patient with Kabuki make-up syndrome." Am. J. Med. Genet.. 1997;71(4):486-7.
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Yoon JK, Ahn KJ, Kwon BS, et al. "The strong association of left-side heart anomalies with Kabuki syndrome." Korean J Pediatr. 2015;58(7):256-62. Abstract
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Yoshioka S, Takano T, Matsuwake K, Sokoda T, Takeuchi Y. "A Japanese patient with Kabuki syndrome and unilateral perisylvian cortical dysplasia." Brain Dev.. 2010. Abstract
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Yuan S-M. "Congenital heart defects in Kabuki syndrome." Cardiol J. 2013;20(2):121-4. Abstract
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  • Home
  • Overview
    • Cause
    • Diagnosis
  • Health Issues
    • Facial
    • MusculoSkeletal
    • Neurological
    • Growth
    • Cardiac
    • Hearing
    • Vision
    • Sensory/Behavior
    • GastroIntestinal
    • Endocrine and GenitoUrinary
    • Immune/Blood Disorders
    • Ectodermal
  • Therapies
    • Physical Therapy
    • Occupational Therapy
    • Speech Therapy
    • Sensory Therapy
    • Feeding Therapy
    • Education
    • Other Therapies
  • Managing KS
    • Medical Management
    • Transition to Adulthood
    • Practical Tools
  • Research
    • Diagnosis
    • Genetics
    • Studies
  • Community
    • Professional Directory
    • Email Discussion Group
    • Personal Stories
    • Events
  • Resources
    • Glossary of Medical Terms
    • Publications
    • Newsletter
  • About KSN