Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Kabuki syndrome 2 is an x-linked dominant disorder caused by mutations of the KDM6A gene. Kabuki syndrome is characterized by typical facial deformities, skeletal abnormalities, dwarfism, and mental retardation.
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Lederer D et al. (2012) Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome. 
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| 2. |
Miyake N et al. (2013) KDM6A point mutations cause Kabuki syndrome.
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| 3. |
Miyake N et al. (2013) MLL2 and KDM6A mutations in patients with Kabuki syndrome.
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| 4. |
Micale L et al. (2014) Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.
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| 5. |
Lederer D et al. (2014) A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A.
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| 6. |
Van Laarhoven PM et al. (2015) Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development.
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| 7. |
Niikawa N et al. (1981) Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency.
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| 8. |
OMIM.ORG article Omim 300867
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