NKX2-5 Mutations in an Inbred Consanguineous Population: Genetic and Phenotypic Diversity
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 s...
Main Authors: | , , , , , , , , , |
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Format: | Online |
Language: | English |
Published: |
Nature Publishing Group
2015
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Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4351524/ |