TY - JOUR
T1 - Genetics of conotruncal malformations
T2 - Review of the literature and report of a consanguineous kindred with various conotruncal malformations
AU - Rein, A. J.J.T.
AU - Dollberg, S.
AU - Gale, R.
PY - 1990
Y1 - 1990
N2 - Genetic predisposition in congenital heart disease is considered to be a component of multifactorial inheritance. Recently, monogenic inheritance in conotruncal malformations has been suggested. We describe a consanguineous kindred with various conotruncal malformations, the presence of which lends support to the idea that this spectrum of malformation is monogenically inherited. Theoretical background and experimental and clinical data are reviewed and discussed.
AB - Genetic predisposition in congenital heart disease is considered to be a component of multifactorial inheritance. Recently, monogenic inheritance in conotruncal malformations has been suggested. We describe a consanguineous kindred with various conotruncal malformations, the presence of which lends support to the idea that this spectrum of malformation is monogenically inherited. Theoretical background and experimental and clinical data are reviewed and discussed.
KW - congenital heart disease
KW - monogenic inheritance
KW - multifactorial inheritance
UR - http://www.scopus.com/inward/record.url?scp=0025367690&partnerID=8YFLogxK
U2 - 10.1002/ajmg.1320360322
DO - 10.1002/ajmg.1320360322
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C2 - 2194395
AN - SCOPUS:0025367690
SN - 0148-7299
VL - 36
SP - 353
EP - 355
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 3
ER -