Authors report on the genetic epidemiologic investigation of the upper limb--cardiovascular (Holt-Oram) syndrome. The source of cases was the material of the Hungarian Congenital Malformation Registry. Birth prevalence was 0.95/100,000 total births. 85% of all cases proved to be consequences of new mutations, hence the mutation rate was 4.07 x 10(-6) +/- 3.12 x 10(-6).
|Translated title of the contribution||Holt-Oram syndrome|
|Pages (from-to)||73-74, 77-78|
|Publication status||Published - Jan 13 1991|
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