Novel CHD7 mutations contributing to the mutation spectrum in patients with CHARGE syndrome

European Journal of Medical Genetics

Volumn 53, Issue 5, 2010, Pages 280-285

  Wessels, Kathrin ^a   Bohnhorst, Bettina ^a   Luhmer, Ingrid ^a   Morlot, Susanne ^b   Bohring, Axel ^c   Jonasson, Jon ^d   Epplen, Jörg T ^e   Gadzicki, Dorothea ^a   Glaser, Stefanie ^a   Göhring, Gudrun ^a   Mälzer, Madeleine ^a   Hein, Anke ^a   Arslan Kirchner, Mine ^a   Stuhrmann, Manfred ^a   Schmidtke, Jörg ^a   Pabst, Brigitte ^a  

^a HANNOVER MEDICAL SCHOOL   (Germany)

^b MVZ Wagnerstibbe   (Germany)

^c UNIVERSITY OF MÜNSTER   (Germany)

^d LINKÖPING UNIVERSITY   (Sweden)

^e RUHR UNIVERSITY BOCHUM   (Germany)

Author keywords

CHARGE syndrome; CHD7; Clinical variability; Detection rate; MLPA; Mutation

Indexed keywords

DNA BINDING PROTEIN; DNA BINDING PROTEIN 7; UNCLASSIFIED DRUG;

ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; FEMALE; FRAMESHIFT MUTATION; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MALE; MISSENSE MUTATION; NONSENSE MUTATION; PHENOTYPE; SYNDROME CHARGE;

ADOLESCENT; CHARGE SYNDROME; CHILD; CHILD, PRESCHOOL; DNA HELICASES; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FEMALE; GENOME, HUMAN; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION, MISSENSE; NUCLEIC ACID AMPLIFICATION TECHNIQUES; PHENOTYPE; YOUNG ADULT;

EID: 77956924029     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2010.07.002     Document Type: Article

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