A review of genetic mutation in familial Hirschsprung's disease in South Africa: towards genetic counseling

Journal of Pediatric Surgery

Volumn 43, Issue 2, 2008, Pages 325-329

  Moore, Samuel W ^a,b   Zaahl, Monique G ^a,b  

^a STELLENBOSCH UNIVERSITY   (South Africa)

^b UNIVERSITY OF STELLENBOSCH   (South Africa)

Author keywords

Children; Counseling; EDNRB; Genetic; Hirschsprung; RET

Indexed keywords

ARTICLE; CONTROLLED STUDY; FAMILIAL DISEASE; FEMALE; GENE MUTATION; GENETIC COUNSELING; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HIRSCHSPRUNG DISEASE; HUMAN; INHERITANCE; MAJOR CLINICAL STUDY; MALE; MOTHER CHILD RELATION; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; SEXUAL TRANSMISSION; SINGLE NUCLEOTIDE POLYMORPHISM;

AGE FACTORS; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DEVELOPING COUNTRIES; FEMALE; FOLLOW-UP STUDIES; GENETIC COUNSELING; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; HETEROZYGOTE; HIRSCHSPRUNG DISEASE; HUMANS; INFANT; MALE; MUTATION; PEDIGREE; PROBABILITY; PROTO-ONCOGENE PROTEINS C-RET; REFERENCE VALUES; RISK ASSESSMENT; SEVERITY OF ILLNESS INDEX; SEX FACTORS; SOUTH AFRICA;

EID: 38949109344     PISSN: 00223468     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpedsurg.2007.10.021     Document Type: Article

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