CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome

Clinical Genetics

Volumn 74, Issue 1, 2008, Pages 31-38

  Wincent, Josephine ^a   Holmberg, E ^b   Stromland K ^c   Soller, M ^d   Mirzaei, L ^c   Djureinovic, T ^a   Robinson, K L ^a   Anderlid, B M ^a   Schoumans, J ^a  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^b SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

^c UNIVERSITY OF GOTHENBURG   (Sweden)

^d LUND UNIVERSITY HOSPITAL   (Sweden)

Author keywords

Charge syndrome; CHD7; Deletion; MLPA; Mutation

Indexed keywords

CHROMODOMAIN HELICASE DNA BINDING PROTEIN 7; DNA; DNA BINDING PROTEIN;

ADOLESCENT; ADULT; ARTICLE; BONE MALFORMATION; CHILD; CLINICAL ARTICLE; COHORT ANALYSIS; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; DNA SEQUENCE; EXON; FAMILIAL DISEASE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FRAMESHIFT MUTATION; GENE AMPLIFICATION; GENE DELETION; GENE DUPLICATION; GENETIC SCREENING; HETEROZYGOSITY; HUMAN; MALE; MISSENSE MUTATION; MONOZYGOTIC TWINS; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PRIORITY JOURNAL; SWEDEN; SYNDROME CHARGE; TEMPORAL BONE;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; COLOBOMA; DNA HELICASES; DNA-BINDING PROTEINS; EAR; FEMALE; GROWTH DISORDERS; HEART DEFECTS, CONGENITAL; HUMANS; MALE; MUTATION; PEDIGREE; SYNDROME;

EID: 45149091512     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2008.01014.x     Document Type: Article

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