Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele.

Radhakrishna, Uppala

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