"Shifted" threshold may explain diversity of cardiovascular malformations in multiple congenital abnormalities syndromes: 3C (Ritscher-Schinzel) syndrome as an example.

Abstract excerpt

The analysis of cardiovascular malformations (CVM) in 3C (Ritscher-Schinzel) syndrome showed at least 9 types of CVM in 24 cases, including 4 cases from the Baltimore-Washington Infant Study. The proportion of different CVM forms was similar to that of the general population. The same is also true for many other syndromes of multiple congenital abnormalities (MCA), due either to aneuploidy or to Mendelian...

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