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Article

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

Journal of medical genetics - 1 Apr 2012

Radhakrishna Uppala, Nath Swapan K, McElreavey Ken, Ratnamala Uppala, Sun Celi, Maiti Amit K, Gagnebin Maryline, Béna Frédérique, Newkirk Heather L, Sharp Andrew J, Everman David B, Murray Jeffrey C, Schwartz Charles E, Antonarakis Stylianos E, Butler Merlin G

Abstract excerpt

BACKGROUND: 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. METHODS...

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Share to Chromosome Duplication
Share to Chromosomes, Human, Pair 1

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Comparative Genomic Hybridization

Share to DNA Copy Number Variations

Share to Genes, Dominant

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Source

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Identifiers

PMID: 22499347
DOI: 10.1136/jmedgenet-2012-100826
PMCID: PMC5312754

Genes

ALG6
FOXD3
NPL
PGM1
ROR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22499347-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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