Haploinsufficiency of the gene Quaking (QKI) is associated with the 6q terminal deletion syndrome

American Journal of Medical Genetics, Part A

Volumn 152, Issue 2, 2010, Pages 319-326

  Backx, Liesbeth ^a   Fryns, Jean Pierre ^a   Marcelis, Carlo ^b   Devriendt, Koen ^a   Vermeesch, Joris ^a   Van Esch, Hilde ^a  

^a UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Array painting; Chromosome 6q; QKI; Subtelomeric deletion; Translocation

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CHROMOSOME 6Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME TRANSLOCATION; DNA MICROARRAY; FEMALE; GENE; GENE MAPPING; GENETIC ANALYSIS; HAPLOTYPE; HUMAN; PHENOTYPE; PRIORITY JOURNAL; QUAKING GENE; TELOMERE;

ABNORMALITIES, MULTIPLE; ADULT; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 6; COMPARATIVE GENOMIC HYBRIDIZATION; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MALE; PHENOTYPE; RNA-BINDING PROTEINS; SYNDROME; TRANSLOCATION, GENETIC;

EID: 75449091153     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33202     Document Type: Article

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