Familial coarctation of the aorta in three generations

Citation
C. Stoll et al., Familial coarctation of the aorta in three generations, ANN GENET, 42(3), 1999, pp. 174-176
Citations number
14
Categorie Soggetti
Molecular Biology & Genetics
Journal title
ANNALES DE GENETIQUE
ISSN journal
00033995 → ACNP
Volume
42
Issue
3
Year of publication
1999
Pages
174 - 176
Database
ISI
SICI code
0003-3995(1999)42:3<174:FCOTAI>2.0.ZU;2-6
Abstract
Four members in three generations of a family were affected by a coarctatio n of the aorta (CoA) which was mild or severe, either isolated or in associ ation with other cardiac defects, This family suggests that a rare form of CoA could be the result of an autosomal dominant mutation with incomplete p enetrance and variable expressivity rather than polygenic inheritance.