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Kids with Kabuki Syndrome

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Home ยป Dr. Jeffrey Ming
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Dr. Jeffrey Ming

2011
Hannibal MC, Buckingham KJ, Ng SB, et al. "Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome." Am. J. Med. Genet. A. 2011;155A(7):1511-6. Abstract
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2005
Hoffman JD, Ciprero KL, Sullivan KE, et al. "Immune abnormalities are a frequent manifestation of Kabuki syndrome." Am. J. Med. Genet. A. 2005;135(3):278-81. Abstract
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Ming JE, Russell KL, McDonald-McGinn DM, Zackai EH. "Autoimmune disorders in Kabuki syndrome." Am. J. Med. Genet. A. 2005;132A(3):260-2. Abstract
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Armstrong L, Abd El Moneim A, Aleck K, et al. "Further delineation of Kabuki syndrome in 48 well-defined new individuals." Am. J. Med. Genet. A. 2005;132A(3):265-72. Abstract
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Ciprero KL, Clayton-Smith J, Donnai D, Zimmerman RA, Zackai EH, Ming JE. "Symptomatic Chiari I malformation in Kabuki syndrome." Am. J. Med. Genet. A. 2005;132A(3):273-5. Abstract
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Hoffman JD, Zhang Y, Greshock J, et al. "Array based CGH and FISH fail to confirm duplication of 8p22-p23.1 in association with Kabuki syndrome." J. Med. Genet.. 2005;42(1):49-53. Abstract
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2003
Ming JE, Russell KL, Bason L, McDonald-McGinn DM, Zackai EH. "Coloboma and other ophthalmologic anomalies in Kabuki syndrome: distinction from charge association." Am. J. Med. Genet. A. 2003;123A(3):249-52. 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
    • Family Directory
    • Professional Directory
    • Email Discussion Group
    • Personal Stories
    • Events
  • Resources
    • Publications
    • Newsletter
  • About KSN
  • Contact

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