Journal article
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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Bibliographic Details
- 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
Item Description
- 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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- Copyright date:
- 2009
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