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Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

Abstract:

Background: Recurrent 15q13.3 microdeletions were recently identified with identical proximal (BP4) and distal (BP5) breakpoints and associated with mild to moderate mental retardation and epilepsy. Methods: To assess further the clinical implications of this novel 15q13.3 microdeletion syndrome, 18 new probands with a deletion were molecularly and clinically characterised. In addition, we evaluated the characteristics of a family with a more proximal deletion between BP3 and BP4. Finally, fo...

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Publication status:
Published

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Publisher copy:
10.1136/jmg.2008.063412

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Journal:
JOURNAL OF MEDICAL GENETICS
Volume:
46
Issue:
8
Pages:
511-523
Publication date:
2009-08-01
DOI:
EISSN:
1468-6244
ISSN:
0022-2593
Source identifiers:
94823
Language:
English
Pubs id:
pubs:94823
UUID:
uuid:1bef01b8-0266-4788-8242-dbad07fc8796
Local pid:
pubs:94823
Deposit date:
2012-12-19

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