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

BMC Medical Genetics

Volumn 16, Issue 1, 2015, Pages

  Roma, Davide ^a   Palma, Paolo ^a   Capolino, Rossella ^a   Figà Talamanca, Lorenzo ^a   Diomedi Camassei, Francesca ^a   Lepri, Francesca Romana ^a   Digilio, Maria Cristina ^a   Marras, Carlo Efisio ^a   Messina, Raffaella ^a   Carai, Andrea ^a   Randi, Franco ^a   Mastronuzzi, Angela ^a  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

Author keywords

Cancer predisposition syndromes; Kabuki syndrome; KMT2D mutation; Spinal ependymoma

Indexed keywords

EPITHELIAL MEMBRANE ANTIGEN; GLIAL FIBRILLARY ACIDIC PROTEIN;

ADULT; ARTICLE; CASE REPORT; CLEFT PALATE; COGNITIVE DEFECT; EPENDYMOMA; EYELID DISEASE; FEMALE; GENE; GENE MUTATION; HETEROZYGOSITY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; JOINT LAXITY; KABUKI MAKEUP SYNDROME; KMT2D GENE; LOW BACK PAIN; MOTOR DYSFUNCTION; MUSCLE HYPOTONIA; NOSE MALFORMATION; NUCLEAR MAGNETIC RESONANCE IMAGING; SPINAL EPENDYMOMA; SPINE SURGERY; YOUNG ADULT; COMPLICATION; CONGENITAL MALFORMATION; FACE; HEMATOLOGIC DISEASE; MULTIPLE MALFORMATION SYNDROME; PATHOLOGY; SPINAL CORD NEOPLASMS; VESTIBULAR DISORDER;

ABNORMALITIES, MULTIPLE; EPENDYMOMA; FACE; FEMALE; HEMATOLOGIC DISEASES; HUMANS; MAGNETIC RESONANCE IMAGING; SPINAL CORD NEOPLASMS; VESTIBULAR DISEASES; YOUNG ADULT;

EID: 84940733519     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/s12881-015-0228-4     Document Type: Article

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