共 41 条
The geneticist's role in adult congenital heart disease
被引:11
作者:

Bernier, Francois P.
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机构:
Univ Calgary, Alberta Childrens Hosp, Dept Med Genet, Calgary, AB T2T 5C7, Canada Univ Calgary, Alberta Childrens Hosp, Dept Med Genet, Calgary, AB T2T 5C7, Canada

Spaetgens, Renee
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机构:
Univ Calgary, Alberta Childrens Hosp, Dept Med Genet, Calgary, AB T2T 5C7, Canada Univ Calgary, Alberta Childrens Hosp, Dept Med Genet, Calgary, AB T2T 5C7, Canada
机构:
[1] Univ Calgary, Alberta Childrens Hosp, Dept Med Genet, Calgary, AB T2T 5C7, Canada
关键词:
D O I:
10.1016/j.ccl.2006.08.001
中图分类号:
R5 [内科学];
学科分类号:
1002 ;
100201 ;
摘要:
The Human Genome Project promises to revolutionize our understanding and approach to human diseases. Specifically for congenital heart defects (CHDs),. this project promises to identify the genes and pathways involved in normal cardiac development and to determine the impact of mutations in these genes in the pathogenesis of syndromic and nonsyndromic CHDs. For clinicians involved in the care of adults who have congenital heart disease, some of these advances in genetic knowledge are now being translated into clinical care, raising the question of what role this new era of genetic knowledge should have in the adult congenital heart disease (ACHD) clinic. The authors summarize the clinical and molecular advances relevant to the care and genetic counseling of ACHD patients and explore the role of genetic care providers in an ACHD clinic.
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页码:557 / +
页数:15
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