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

BACKGROUND: 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. Mut...

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Bibliografiska uppgifter
I publikationen:BMC Med Genet
Huvudupphovsmän: Roma, Davide, Palma, Paolo, Capolino, Rossella, Figà-Talamanca, Lorenzo, Diomedi-Camassei, Francesca, Lepri, Francesca Romana, Digilio, Maria Cristina, Marras, Carlo Efisio, Messina, Raffaella, Carai, Andrea, Randi, Franco, Mastronuzzi, Angela
Materialtyp: Artigo
Språk:Inglês
Publicerad: BioMed Central 2015
Ämnen:
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4560867/
https://ncbi.nlm.nih.gov/pubmed/26341229
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-015-0228-4
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