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Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele |
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Published in | Journal of medical genetics. 2012, vol. 49, no. 4, p. 270-6 | |
Abstract | Omphalocele is a congenital birth defect characterised by the presence of internal organs located outside of the ventral abdominal wall. The purpose of this study was to identify the underlying genetic mechanisms of a large autosomal dominant Caucasian family with omphalocele. | |
Keywords | 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 | |
Identifiers | PMID: 22499347 | |
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Research group | Pathologie Moléculaire de la Trisomie 21 et le Génome Humain (248) | |
Citation (ISO format) | RADHAKRISHNA, Uppala et al. Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele. In: Journal of medical genetics, 2012, vol. 49, n° 4, p. 270-6. doi: 10.1136/jmedgenet-2012-100826 https://archive-ouverte.unige.ch/unige:34647 |