Article
NKX2-5 mutations in an inbred consanguineous population: genetic and phenotypic diversity.
Scientific reports - 6 Mar 2015
Abou Hassan Ossama K, Fahed Akl C, Batrawi Manal, Arabi Mariam, Refaat Marwan M, DePalma Steven R, Seidman J G, Seidman Christine E, Bitar Fadi F, Nemer Georges M
Abstract excerpt
NKX2-5 mutations are associated with different forms of congenital heart disease. Despite the knowledge gained from molecular and animal studies, genotype-phenotype correlations in humans are limited by the lack of large cohorts and the incomplete assessment of family members. We hypothesized that studying the role of NKX2-5 in inbred populations with homogeneous genetic backgrounds and high consanguinity rates...
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