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Spinal ependymoma in a patient with Kabuki syndrome: a case report
2015
BMC Medical Genetics
Kabuki syndrome is a rare disorder characterized by the association of mental retardation and postnatal growth deficiency with distinctive facial appearance, skeletal anomalies, cardiac and renal malformation. Two causative genes have been identified in patients with Kabuki syndrome. Mutation of KMT2D (MLL2) was identified in 55-80 % of patients, while 9-14 % of KMT2D negative patients have mutation in KDM6A gene. So far, few tumors have been reported in patients with Kabuki syndrome. We
doi:10.1186/s12881-015-0228-4
pmid:26341229
pmcid:PMC4560867
fatcat:42qluoiddjdxzoj2sdbfrmp3ky