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

Abstract:

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 ...

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Publication status:
Published

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Publisher copy:
10.1073/pnas.0500584102

Authors


Willoughby, C More by this author
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Journal:
Proceedings of the National Academy of Sciences of the United States of America
Volume:
102
Issue:
35
Pages:
12477-12482
Publication date:
2005-08-05
DOI:
EISSN:
1091-6490
ISSN:
0027-8424
URN:
uuid:99b09df6-15c7-491b-ac8c-f639e891c057
Source identifiers:
71812
Local pid:
pubs:71812

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