Complex pathogenesis of Hirschsprung's disease in a patient with hydrocephalus, vesico-ureteral reflux and a balanced translocation t(3;17)(p12;q11)

European Journal of Human Genetics

Volumn 17, Issue 4, 2009, Pages 483-490

  Griseri, Paola ^a   Vos, Yvonne ^b   Giorda, Roberto ^c   Gimelli, Stefania ^d   Beri, Silvana ^c   Santamaria, Giuseppe ^a   Mognato, Guendalina ^e   Hofstra, Robert M W ^b   Gimelli, Giorgio ^a   Ceccherini, Isabella ^a  

^a G GASLINI INSTITUTE   (Italy)

^b UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^c SCIENTIFIC INSTITUTE   (Italy)

^d UNIVERSITY OF PAVIA   (Italy)

^e UNIVERSITY OF PADOVA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIBIOTIC AGENT; BINDING PROTEIN; CELL ADHESION MOLECULE; L1 CELL ADHESION MOLECULE; MYOSIN; MYOSIN 18A; PROTEIN RET; TRANSFORMING GROWTH FACTOR BETA1 INDUCED ANTIAPOPTOTIC FACTOR 1; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CHILD; CHROMOSOME TRANSLOCATION 17; CHROMOSOME TRANSLOCATION 3; COLON RESECTION; GENE DELETION; GENE MUTATION; GENETIC PREDISPOSITION; HIRSCHSPRUNG DISEASE; HUMAN; HUMAN CELL; HYDROCEPHALUS; INFANT; LAPAROSCOPIC SURGERY; LOW DRUG DOSE; MALE; NEWBORN; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; RECIPROCAL CHROMOSOME TRANSLOCATION; URINARY TRACT INFECTION; VESICOURETERAL REFLUX;

BASE SEQUENCE; CHILD; CHROMOSOMES, HUMAN, PAIR 17; CHROMOSOMES, HUMAN, PAIR 3; HIRSCHSPRUNG DISEASE; HUMANS; HYDROCEPHALUS; MALE; MOLECULAR SEQUENCE DATA; NEURAL CELL ADHESION MOLECULE L1; PROTO-ONCOGENE PROTEINS C-RET; TRANSLOCATION, GENETIC; VESICO-URETERAL REFLUX;

EID: 62849103110     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2008.191     Document Type: Article

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