Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Kabuki syndrome

Kabuki syndrome is characterized by typical facial deformities, skeletal abnormalities, dwarfism, and mental retardation.

Systematic

Hereditary bone disease
Acro-renal-ocular syndrome
Albright hereditary osteodystrophy
Bone dysplasia
Ehlers-Danlos syndrome due to tenascin-X deficiency
Familial expansile osteolysis
IVIC syndrome
Juvenile Paget disease
Kabuki syndrome
KDM6A
Kabuki syndrome 1
KMT2D
Kabuki syndrome 2
KDM6A
Metabolic bone disease
Osteoarthritis susceptibility 5

References:

1.

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 [^]
9.

Orphanet article

Orphanet ID 2322 [^]
10.

Wikipedia article

Wikipedia EN (Kabuki_syndrome) [^]
Update: April 29, 2019