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 While much of the information is still relevant, some of it has become out-of-date.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

Sort by: Author Title [ Type  (Asc)] Year
Filters: Author is Schoumans, Jacqueline  [Clear All Filters]
Journal Article
Schoumans J, Nordgren A, Ruivenkamp C, et al. "Genome-wide screening using array-CGH does not reveal microdeletions/microduplications in children with Kabuki syndrome." Eur. J. Hum. Genet.. 2005;13(2):260-3. Abstract
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Makrythanasis P, van Bon BW, Steehouwer M, et al. "MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study." Clin. Genet.. 2013. Abstract
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Bottani A, Pardo B, Bouchardy I, Schoumans J, Toutain A, Conrad B. "No major contribution of the TGFBR1- and TGFBR2-mediated pathway to Kabuki syndrome." Am. J. Med. Genet. A. 2006;140(8):903-5.
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© 2011 Kabuki Syndrome Network   |    Disclaimer

  • 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