Genomic alterations in biliary atresia suggest region of potential disease susceptibility in 2q37.3

American Journal of Medical Genetics, Part A

Volumn 152, Issue 4, 2010, Pages 886-895

  Leyva Vega, Melissa ^a   Gerfen, Jennifer ^a   Thiel, Brian D ^a   Jurkiewicz, Dorota ^b   Rand, Elizabeth B ^a   Pawlowska, Joanna ^b   Kaminska, Diana ^b   Russo, Pierre ^c   Gai, Xiaowu ^a   Krantz, Ian D ^a   Kamath, Binita M ^d   Hakonarson, Hakon ^a   Haber, Barbara A ^a   Spinner, Nancy B ^a  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

^d HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

Biliary atresia; Copy number variation; Deletion 2q37.3

Indexed keywords

ALANINE GLYOXYLATE AMINOTRANSFERASE; GENOMIC DNA;

ADOLESCENT; AGXT GENE; ARTICLE; BILE DUCT ATRESIA; CHROMOSOME 2Q; CHROMOSOME DELETION; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DIFFERENTIAL DIAGNOSIS; ECHOGRAPHY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE DELETION; GENE SEQUENCE; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; GENOTYPE; HEPATOBILIARY SCINTISCANNING; HUMAN; INFANT; KARYOTYPE; KLINEFELTER SYNDROME; LAPAROTOMY; LIVER BIOPSY; LIVER TRANSPLANTATION; MALE; NECROTIZING ENTEROCOLITIS; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ADULT; BILIARY ATRESIA; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 2; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOME, HUMAN; HETEROZYGOTE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; INFANT, NEWBORN; MALE; POLYMORPHISM, GENETIC; PREGNANCY;

EID: 77950448432     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33332     Document Type: Article

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