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Predicted v. real prevalence of the 22q11.2 deletion syndrome in children with congenital heart disease presenting to Red Cross War Memorial Children’s Hospital, South Africa : a prospective study

De Decker, R.; Bruwer, Z.; Hendricks, L.; Schoeman, M.; Schutte, G.; Lawrenson, J. (Health & Medical Publishing Group, 2016)

Background. The 22q11.2 deletion syndrome (22qDS) has more than 180 associated phenotypic features, yet genotype-phenotype correlation remains obscure. Since many of the clinical characteristics are serious, yet treatable ...