Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping
Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping
About this item
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Author / Creator
Publisher
Berlin/Heidelberg: Berlin/Heidelberg : Springer-Verlag
Journal title
Language
English
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Publication information
Publisher
Berlin/Heidelberg: Berlin/Heidelberg : Springer-Verlag
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More information
Scope and Contents
Contents
We report four new patients with a submicroscopic deletion in 15q24 manifesting developmental delay, short stature, hypotonia, digital abnormalities, joint laxity, genital abnormalities, and characteristic facial features. These clinical features are shared with six recently reported patients with a 15q24 microdeletion, supporting the notion that t...
Alternative Titles
Full title
Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping
Authors, Artists and Contributors
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Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3669685
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3669685
Other Identifiers
ISSN
0340-6717
E-ISSN
1432-1203
DOI
10.1007/s00439-009-0706-x
