Copy number variants in candidate genes are genetic modifiers of Hirschsprung disease

PLoS ONE

Volumn 6, Issue 6, 2011, Pages

  Jiang, Qian ^a   Ho, Yen Yi ^a   Hao, Li ^a   Berrios, Courtney Nichols ^a   Chakravarti, Aravinda ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; COPY NUMBER VARIATION; FEMALE; GENE; GENE LOCUS; GENETIC ASSOCIATION; HIRSCHSPRUNG DISEASE; HUMAN; MALE; MAPK10 GENE; PILOT STUDY; REGULATORY SEQUENCE; SOX2 GENE; ZFHX1B GENE; GENETICS; NEWBORN; PHENOTYPE;

HOMEODOMAIN PROTEIN; MITOGEN ACTIVATED PROTEIN KINASE 10; REPRESSOR PROTEIN; SOX2 PROTEIN, HUMAN; TRANSCRIPTION FACTOR SOX; ZEB2 PROTEIN, HUMAN;

COMPARATIVE GENOMIC HYBRIDIZATION; DNA COPY NUMBER VARIATIONS; FEMALE; HIRSCHSPRUNG DISEASE; HOMEODOMAIN PROTEINS; HUMANS; INFANT, NEWBORN; MALE; MITOGEN-ACTIVATED PROTEIN KINASE 10; PHENOTYPE; REPRESSOR PROTEINS; SOXB1 TRANSCRIPTION FACTORS;

EID: 79959355075     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0021219     Document Type: Article

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