Warsaw Breakage Syndrome, a Cohesinopathy Associated with Mutations in the XPD Helicase Family Member DDX11/ChlR1

American Journal of Human Genetics

Volumn 86, Issue 2, 2010, Pages 262-266

  van der Lelij, Petra ^a   Chrzanowska, Krystyna H ^b   Godthelp, Barbara C ^c   Rooimans, Martin A ^a   Oostra, Anneke B ^a   Stumm, Markus ^d   Zdzienicka, Małgorzata Z ^e   Joenje, Hans ^a   de Winter, Johan P ^a  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^c LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^d OTTO VON GUERICKE UNIVERSITY   (Germany)

^e NICOLAUS COPERNICUS UNIVERSITY   (Poland)

Author keywords

[No Author keywords available]

Indexed keywords

CAMPTOTHECIN; DEAD BOX PROTEIN; DEAD BOX PROTEIN 11; MITOMYCIN C; PROTEIN CHIR1; UNCLASSIFIED DRUG; XERODERMA PIGMENTOSUM GROUP D PROTEIN;

ADOLESCENT; ARTICLE; ATAXIA TELANGIECTASIA; CASE REPORT; CHROMATID ABERRATION; CHROMOSOMAL INSTABILITY; CHROMOSOME BREAKAGE; CLINICAL FEATURE; COHESINOPATHY; CYTOGENETICS; DE LANGE SYNDROME; DNA REPAIR; FANCONI ANEMIA; GENE FREQUENCY; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; GROWTH RETARDATION; HUMAN; HYPERPIGMENTATION; IMMUNOBLOTTING; LABORATORY TEST; MALE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FUNCTION; ROBERTS SYNDROME; WARSAW BREAKAGE SYNDROME; X RAY;

ABNORMALITIES, MULTIPLE; ADOLESCENT; BASE SEQUENCE; CHILD, PRESCHOOL; CHROMOSOME BREAKAGE; DEAD-BOX RNA HELICASES; DNA HELICASES; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NEOPLASMS; PEDIGREE; PHENOTYPE; POLAND; PREGNANCY; SISTER CHROMATID EXCHANGE; SYNDROME; XERODERMA PIGMENTOSUM;

EID: 76049096485     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2010.01.008     Document Type: Article

References (8)

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