Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond-Blackfan anaemia

Journal of Medical Genetics

Volumn 47, Issue 11, 2010, Pages 777-781

  Wat, Margaret J ^a   Enciso, Victoria B ^a   Wiszniewski, Wojciech ^a   Resnick, Trevor ^b   Bader, Patricia ^c   Roeder, Elizabeth R ^d   Freedenberg, Debra ^e,f   Brown, Chester ^a   Stankiewicz, Pawel ^a,g   Cheung, Sau Wai ^a   Scott, Daryl A ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^c Parkview Hospital   (United States)

^d Mays Cancer Center at UT Health San Antonio   (United States)

^e VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f TEXAS DEPARTMENT OF STATE HEALTH SERVICES   (United States)

^g INSTITUTE OF MOTHER AND CHILD   (Poland)

Author keywords

[No Author keywords available]

Indexed keywords

AP3B2 GENE; ARTICLE; BLACKFAN DIAMOND ANEMIA; CHROMOSOME 15Q; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; COGNITIVE DEFECT; COHORT ANALYSIS; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL DIAPHRAGM HERNIA; CPEB1 GENE; CRYPTORCHISM; GENE; HDGFRP3 GENE; HOMER2 GENE; HUMAN; PRIORITY JOURNAL; SHORT STATURE;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ANEMIA, DIAMOND-BLACKFAN; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 15; COGNITION DISORDERS; HERNIA, DIAPHRAGMATIC; HUMANS; INFANT; INFANT, NEWBORN; MALE; RISK FACTORS;

EID: 78149361715     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2009.075903     Document Type: Article

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