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© Research
Publication : Journal of medical genetics

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

Scientific Fields
Diseases
Organisms
Applications
Technique

Published in Journal of medical genetics - 01 Apr 2012

Radhakrishna U, Nath SK, McElreavey K, Ratnamala U, Sun C, Maiti AK, Gagnebin M, Béna F, Newkirk HL, Sharp AJ, Everman DB, Murray JC, Schwartz CE, Antonarakis SE, Butler MG

Link to Pubmed [PMID] – 22499347

J. Med. Genet. 2012 Apr;49(4):270-6

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.

http://www.ncbi.nlm.nih.gov/pubmed/22499347