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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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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:
2009-08-05
DOI:
EISSN:
1468-6244
ISSN:
0022-2593
URN:
uuid:57fdf537-ac84-47d9-8674-79c6aa71e548
Source identifiers:
95898
Local pid:
pubs:95898

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