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Journal article

ASPP2 deficiency causes features of 1q41q42 microdeletion syndrome

Abstract:

Chromosomal abnormalities are implicated in a substantial number of human developmental syndromes, but for many such disorders little is known about the causative genes. The recently described 1q41q42 microdeletion syndrome is characterized by characteristic dysmorphic features, intellectual disability and brain morphological abnormalities, but the precise genetic basis for these abnormalities remains unknown. Here, our detailed analysis of the genetic abnormalities of 1q41q42 microdeletion c...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Accepted Manuscript

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Publisher copy:
10.1038/cdd.2016.76

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Department:
Oxford, MSD, Nuffield Department of Clinical Medicine, Oxford Ludwig Institute for Cancer Research
Role:
Author
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Department:
Oxford, MSD, Nuffield Department of Clinical Medicine, Oxford Ludwig Institute for Cancer Research
Role:
Author
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Department:
Oxford, MSD, Radcliffe Department of Medicine, Division of Cardiovascular Medicine
Role:
Author
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Funding agency for:
Schneider, JE
Ludwig Institute for Cancer Research More from this funder
Publisher:
Nature Publishing Group Publisher's website
Journal:
Cell Death and Differentiation Journal website
Volume:
23
Pages:
1973–1984
Publication date:
2016-07-22
Acceptance date:
2016-06-13
DOI:
EISSN:
1476-5403
ISSN:
1350-9047
Pubs id:
pubs:636420
URN:
uri:9ba20e61-373a-4e8e-82de-df40a18c2f43
UUID:
9ba20e61-373a-4e8e-82de-df40a18c2f43
Local pid:
pubs:636420

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