Spinal ependymoma in a patient with Kabuki syndrome: a case report

scientific article published on 5 September 2015

Spinal ependymoma in a patient with Kabuki syndrome: a case report is …
instance of (P31):
scholarly articleQ13442814

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P6179Dimensions Publication ID1007874873
P356DOI10.1186/S12881-015-0228-4
P932PMC publication ID4560867
P698PubMed publication ID26341229
P5875ResearchGate publication ID281527743

P50authorFrancesca LepriQ30170288
Andrea CaraiQ42324772
Angela MastronuzziQ57429017
Raffaella MessinaQ59670542
Franco RandiQ82118102
P2093author name stringFrancesca Diomedi-Camassei
Maria Cristina Digilio
Carlo Efisio Marras
Paolo Palma
Lorenzo Figà-Talamanca
Rossella Capolino
Davide Roma
P2860cites workExome sequencing identifies MLL2 mutations as a cause of Kabuki syndromeQ24622470
Diverse functions of PHD fingers of the MLL/KMT2 subfamilyQ27021783
A deletion causing NF2 exon 9 skipping is associated with familial autosomal dominant intramedullary ependymoma.Q30422020
A new malformation syndrome of long palpebralfissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardationQ34283519
Unmasking Kabuki syndromeQ34310239
Trans-tail regulation of MLL4-catalyzed H3K4 methylation by H4R3 symmetric dimethylation is mediated by a tandem PHD of MLL4Q34318365
KMT2D maintains neoplastic cell proliferation and global histone H3 lysine 4 monomethylationQ34385576
Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patientsQ34685121
Kabuki syndrome: diagnostic and treatment considerationsQ36756552
Descriptive epidemiology of ependymal tumours in the United StatesQ36924756
Kabuki syndrome: clinical and molecular diagnosis in the first year of lifeQ38256639
The role of resection alone in select children with intracranial ependymoma: the Canadian Pediatric Brain Tumour Consortium experienceQ38267747
Patient with Kabuki syndrome and acute leukemia.Q51946973
A case of Kabuki make-up syndrome with EBV+Burkitt's lymphoma.Q52009407
High incidence of malformation syndromes in a series of 1,073 children with cancer.Q55040281
Cancer predisposition in children with Kabuki syndromeQ59377127
Low-grade fibromyxoid sarcoma: yet another malignancy associated with Kabuki syndromeQ81427589
Kabuki syndrome and cancer in two patientsQ84303082
P921main subjectependymomaQ1346753
Kabuki syndromeQ1538227
pediatric ependymomaQ7159224
P304page(s)80
P577publication date2015-09-05
P1433published inBMC Medical GeneticsQ15759918
P1476titleSpinal ependymoma in a patient with Kabuki syndrome: a case report
P478volume16