CHARGE and Kabuki syndromes: A phenotypic and molecular link

Human Molecular Genetics

Volumn 23, Issue 16, 2014, Pages 4396-4405

  Schulz, Yvonne ^a   Freese, Luisa ^a   Mänz, Johanna ^a   Zoll, Barbara ^a   Völter, Christiane ^a   Brockmann, Knut ^a   Bögershausen, Nina ^b,c   Becker, Jutta ^b   Wollnik, Bernd ^b,c   Pauli, Silke ^a  

^a UNIVERSITY MEDICAL CENTER GÖTTINGEN   (Germany)

^b UNIVERSITY OF COLOGNE   (Germany)

^c UNIVERSITY OF COLOGNE   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ANUS ATRESIA; ARTICLE; CASE REPORT; CHD7 GENE; CHILD; CONDUCTION DEAFNESS; CONGENITAL MALFORMATION; CONTROLLED STUDY; CRYPTORCHISM; DIFFERENTIAL DIAGNOSIS; EXON; FACIES; FEEDING DIFFICULTY; FOLLOW UP; GENE; GENE MUTATION; GENE SEQUENCE; HEARING DISORDER; HEART DISEASE; HELA CELL LINE; HUMAN; HUMAN CELL; HYPERMETROPIA; HYPOPLASIA; IMMUNOHISTOCHEMISTRY; IMMUNOPRECIPITATION; INTELLIGENCE QUOTIENT; KABUKI MAKEUP SYNDROME; KMT2D GENE; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PALPEBRAL FISSURE; PATENT DUCTUS ARTERIOSUS; PHENOTYPE; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; STRABISMUS; SYNDROME CHARGE; VISUAL DISORDER; ABNORMALITIES; CYTOLOGY; FACE; GENETICS; HEMATOLOGIC DISEASE; METABOLISM; MULTIPLE MALFORMATION SYNDROME; MUTATION; PATHOLOGY; VESTIBULAR DISORDER; CLINICAL FEATURE; HETEROZYGOSITY; PRESCHOOL CHILD; PROTEIN PROTEIN INTERACTION; TWO HYBRID SYSTEM;

ASH2L PROTEIN, MOUSE; CHD7 PROTEIN, HUMAN; DNA BINDING PROTEIN; DNA HELICASE; MLL2 PROTEIN, HUMAN; NUCLEAR PROTEIN; PROTEIN; RBBP5 PROTEIN, MOUSE; TRANSCRIPTION FACTOR; TUMOR PROTEIN; WDR5 PROTEIN, MOUSE; GLUTAMINE; HELICASE; HISTONE METHYLTRANSFERASE; PROTEIN ASH2L; PROTEIN CHD7; PROTEIN KMT2D; PROTEIN RBBP5; PROTEIN WDR5; UNCLASSIFIED DRUG;

ABNORMALITIES, MULTIPLE; CHARGE SYNDROME; CHILD; DNA HELICASES; DNA-BINDING PROTEINS; FACE; HELA CELLS; HEMATOLOGIC DISEASES; HUMANS; MALE; MUTATION; NEOPLASM PROTEINS; NUCLEAR PROTEINS; PHENOTYPE; PROTEINS; TRANSCRIPTION FACTORS; VESTIBULAR DISEASES;

EID: 84904738535     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddu156     Document Type: Article

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