MTHFR 677 TT genotype in a mother and her child with Down syndrome, atrioventricular canal and exstrophy of the bladder: Implications of a mutual genetic risk factor?

European Journal of Pediatrics

Volumn 165, Issue 8, 2006, Pages 566-568

  Reutter, Heiko ^a   Betz, Regina C ^a   Ludwig, Michael ^a   Boemers, Thomas M ^b  

^a UNIVERSITY OF BONN   (Germany)

^b Children's Hospital of Cologne   (Germany)

Author keywords

Down syndrome; Epispadias; Exstrophy of the bladder; MTHFR polymorphism

Indexed keywords

FOLIC ACID; GENE PRODUCT; HOMOCYSTEINE; METHYLENETETRAHYDROFOLIC ACID;

ADULT; ARTICLE; ATRIOVENTRICULAR CANAL; BLADDER EXSTROPHY; CASE REPORT; DISEASE ASSOCIATION; DOWN SYNDROME; EPISPADIAS; FEMALE; FOLIC ACID DEFICIENCY; GENE; GENE MUTATION; GENETIC POLYMORPHISM; GENETIC PREDISPOSITION; GENOTYPE; HOMOZYGOSITY; HUMAN; MENINGOMYELOCELE; MTHFR GENE; NEURAL TUBE DEFECT; NEWBORN; PATHOGENESIS; PRIORITY JOURNAL; PUBIC SYMPHYSIS DIASTASIS; RISK FACTOR; TRISOMY 21; VITAMIN SUPPLEMENTATION;

BLADDER EXSTROPHY; DOWN SYNDROME; ENDOCARDIAL CUSHION DEFECTS; FEMALE; FOLIC ACID DEFICIENCY; GENOTYPE; HUMANS; INFANT, NEWBORN; MALE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); MOTHERS; MUTATION; PENIS; TREATMENT REFUSAL;

EID: 33745635057     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-006-0116-1     Document Type: Article

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