Article
Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden.
Archives of disease in childhood - 1 Feb 2004
Oskarsdóttir S, Vujic M, Fasth A
Abstract excerpt
BACKGROUND: Almost all cases of DiGeorge syndrome, velo-cardio-facial syndrome and conotruncal anomaly face syndrome result from a common deletion of chromosome 22q11.2. These syndromes are usually referred to as the 22q11 deletion syndrome (22q11DS), which has a wide phenotypic spectrum and an e...
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