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Dissecting the genetic complexity of human 6p deletion syndromes by using a region-specific, phenotype-driven mouse screen

Bogani, Debora; Willoughby, Catherine; Davies, Jennifer; Kaur, Kulvinder; Mirza, Ghazala; Paudyal, Anju; Haines, Heather; McKeone, Richard; Cadman, Matthew; Pieles, Guido; Schneider, Jurgen E; Battacharya, Shoumo; Hardy, Andrea; Nolan, Patrick; Tripodis, Nikos; Depew, Michael J; Chandrasekara, Ramya; Duncan, Gimara; Sharpe, Paul T; Greenfield, Andy; Denny, Paul; Brown, Steve D M; Ragoussis, Jiannis; Arkell, Ruth


Monosomy of the human chromosome 6p terminal region results in a variety of congenital malformations that include brain, craniofacial, and organogenesis abnormalities. To examine the genetic basis of these phenotypes, we have carried out an unbiased functional analysis of the syntenic region of the mouse genome (proximal Mmu13). A genetic screen for recessive mutations in this region recovered thirteen lines with phenotypes relevant to a variety of clinical conditions. These include two loci...[Show more]

CollectionsANU Research Publications
Date published: 2005
Type: Journal article
Source: PNAS - Proceedings of the National Academy of Sciences of the United States of America
DOI: 10.1073/pnas.0500584102


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