Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome

European Journal of Medical Genetics

Volumn 51, Issue 5, 2008, Pages 417-425

  Bergman, Jorieke E H ^a   de Wijs, Ilse ^b   Jongmans, Marjolijn C J ^b   Admiraal, Ronald J ^b   Hoefsloot, Lies H ^b   van Ravenswaaij Arts, Conny M A ^a  

^a UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

CHARGE syndrome; CHD7; MLPA; Whole exon deletion; Whole exon duplication

Indexed keywords

CHROMODOMAIN HELICASE DNA BINDING PROTEIN 7; DNA BINDING PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CHARGE LIKE SYNDROME; CHILD; EXON; FEMALE; GENE AMPLIFICATION; GENE DELETION; GENE FREQUENCY; GENETIC DISORDER; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; NEWBORN; SYNDROME CHARGE;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DNA HELICASES; DNA-BINDING PROTEINS; EXONS; FEMALE; GENE DELETION; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION; SYNDROME;

EID: 50549101600     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2008.03.003     Document Type: Article

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