Position effect leading to haploinsufficiency in a mosaic ring chromosome 14 in a boy with autism

European Journal of Human Genetics

Volumn 16, Issue 10, 2008, Pages 1187-1192

  Castermans, Dries ^a   Thienpont, Bernard ^a   Volders, Karolien ^a   Crepel, An ^a   Vermeesch, Joris R ^a   Schrander Stumpel, Connie T ^b   Van de Ven, Wim J M ^a   Steyaert, Jean G ^a,b   Creemers, John W M ^a   Devriendt, Koen ^a  

^a UNIVERSITY OF LEUVEN   (Belgium)

^b MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

AMISYN; BINDING PROTEIN; SYNTAXIN; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; AUTISM; CASE REPORT; CHROMOSOME 14Q; CHROMOSOME 16Q; CHROMOSOME BREAKAGE; CHROMOSOME DUPLICATION; CHROMOSOME MOSAICISM; CHROMOSOME POSITIONING; CHROMOSOME TRANSLOCATION 14; COLOBOMA; GENE EXPRESSION; GENE LOCUS; GENE SILENCING; HOMOZYGOSITY; HUMAN; MALE; METAPHASE CHROMOSOME; PARTIAL MONOSOMY; PARTIAL TRISOMY; PRIORITY JOURNAL; RING CHROMOSOME; TELOMERE;

ADOLESCENT; AUTISTIC DISORDER; CHROMOSOME BREAKAGE; CHROMOSOMES, HUMAN, PAIR 14; CLONING, MOLECULAR; GENE DUPLICATION; HAPLOIDY; HUMANS; MALE; MOSAICISM; TRANSLOCATION, GENETIC;

EID: 50249182517     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2008.71     Document Type: Article

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