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

doi:10.1002/(SICI)1096-8628(19961202)66:1<72::AID-AJMG16>3.0.CO;2-N

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Article

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

American journal of medical genetics - 2 Dec 1996

Lurie I W, Ferencz C

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 tru...

Topics

Abnormalities, Multiple
Case-Control Studies
Female
Heart Defects, Congenital
Humans
Infant
Male
Models, Genetic
Mutation
Syndrome

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