Delineation of a 2.2 Mb microdeletion at 5q35 associated with microcephaly and congenital heart disease

American Journal of Medical Genetics

Volumn 140 A, Issue 5, 2006, Pages 427-433

  Bækvad Hansen, Marie ^a   Tümer, Zeynep ^a   Delicado, Alicia ^b   Erdogan, Fikret ^c   Tommerup, Niels ^a   Larsen, Lars A ^a  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

^b HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^c MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

Author keywords

5q35; CHD; Congenital heart disease; FGF18; Microcephaly; Microdeletion; NKX2 5; NPM1

Indexed keywords

TRANSCRIPTION FACTOR;

ADOLESCENT; ARTICLE; ATRIOVENTRICULAR BLOCK; CASE REPORT; CHROMOSOME 5Q; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOME MAP; CONGENITAL HEART DISEASE; CYTOGENETICS; EBSTEIN ANOMALY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HEART ATRIUM SEPTUM DEFECT; HOMEOBOX; HUMAN; KARYOTYPE 46,XY; MALE; MICROCEPHALY; NKX2 5 GENE; NUCLEOTIDE SEQUENCE; PARACENTRIC CHROMOSOME INVERSION; PRIORITY JOURNAL; UNINDEXED SEQUENCE;

ABNORMALITIES, MULTIPLE; ADOLESCENT; CHROMOSOME BANDING; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 5; EBSTEIN'S ANOMALY; GENE DELETION; GENOTYPE; HEART DEFECTS, CONGENITAL; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MALE; MICROCEPHALY; PHENOTYPE;

EID: 33644857721     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31087     Document Type: Article

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