Novel MLL2 mutation in kabuki syndrome with hypogammaglobulinemia and severe chronic thrombopenia

Journal of Pediatric Hematology/Oncology

Volumn 35, Issue 7, 2013, Pages

  Brackmann, Florian ^a   Krumbholz, Manuela ^a   Langer, Thorsten ^a   Rascher, Wolfgang ^a   Holter, Wolfgang ^a   Metzler, Markus ^a  

^a UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

Author keywords

immunodeficiency; infections; molecular genetics; pediatric hematology; thrombopenia

Indexed keywords

ANTIBIOTIC AGENT; CORTICOSTEROID; IMMUNOGLOBULIN; MIXED LINEAGE LEUKEMIA PROTEIN;

ANTIBIOTIC PROPHYLAXIS; ARTICLE; BRACHYMESOPHALANGY; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CHRONIC DISEASE; COGNITIVE DEFECT; CONGENITAL DIAPHRAGM HERNIA; CRYPTORCHISM; CYTOGENETICS; DEVELOPMENTAL DISORDER; DISEASE ACTIVITY; DISEASE COURSE; EAR DYSPLASIA; EXON; FEBRILE CONVULSION; FINGER MALFORMATION; FRAMESHIFT MUTATION; GENE; GENE DUPLICATION; GENE MUTATION; GROWTH RETARDATION; HIP DISLOCATION; HISTOPATHOLOGY; HORMONE SUBSTITUTION; HUMAN; HYPERTELORISM; HYPOGONADOTROPIC HYPOGONADISM; HYPOTHYROIDISM; IMMUNOGLOBULIN DEFICIENCY; INTERSTITIAL PNEUMONIA; JOINT LAXITY; KABUKI MAKEUP SYNDROME; KIDNEY HYPOPLASIA; LONG PHILTRUM; LUNG INFECTION; LYMPHOCYTIC INTERSTITIAL PNEUMONIA; MALE; MICROCEPHALY; MLL2 GENE; MUSCLE HYPOTONIA; NEUROIMAGING; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; OPHTHALMOLOGY; OPTIC NERVE ATROPHY; PERINATAL PERIOD; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN SYNTHESIS INHIBITION; PSYCHOMOTOR DEVELOPMENT; RECURRENT INFECTION; SCOLIOSIS; SCROTUM DISORDER; SEQUENCE ANALYSIS; THROMBOCYTOPENIA; TOOTH MALFORMATION; TREATMENT RESPONSE; ZINC FINGER MOTIF;

ABNORMALITIES, MULTIPLE; AGAMMAGLOBULINEMIA; DNA-BINDING PROTEINS; FACE; HEMATOLOGIC DISEASES; HUMANS; INFANT, NEWBORN; MALE; MUTATION; NEOPLASM PROTEINS; PHENOTYPE; SEQUENCE ANALYSIS, DNA; SKIN; THROMBOCYTOPENIA; VESTIBULAR DISEASES;

EID: 84885175366     PISSN: 10774114     EISSN: 15363678     Source Type: Journal    
DOI: 10.1097/MPH.0b013e3182707fa8     Document Type: Article

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