Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele. [electronic resource]
- Journal of medical genetics Apr 2012
- 270-6 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1468-6244
10.1136/jmedgenet-2012-100826 doi
Chromosome Duplication Chromosomes, Human, Pair 1 Comparative Genomic Hybridization DNA Copy Number Variations Female Genes, Dominant Genetic Linkage Genome-Wide Association Study Haplotypes Hernia, Umbilical--genetics Humans Lod Score Male Pedigree Polymorphism, Single Nucleotide