Journal article
Refined genotype-phenotype correlations in cases of chromosome 6p deletion syndromes.
- Abstract:
-
Clinical reports of cases with deletions in chromosome 6p are relatively rare. We present a detailed study by fluorescent in situ hybridisation (FISH) of six new cases with distinct but overlapping 6p deletions involving the 6p24-pter chromosomal segment. Chromosomal breakpoints in individual cases were investigated using a large panel of probes previously mapped and characterised in our laboratory to cover the distal region of 6p. These cases have allowed refinement of genotype-phenotype cor...
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- Publication status:
- Published
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- Publisher copy:
- 10.1038/sj.ejhg.5201194
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Authors
Bibliographic Details
- Journal:
- European journal of human genetics : EJHG
- Volume:
- 12
- Issue:
- 9
- Pages:
- 718-728
- Publication date:
- 2004-09-01
- DOI:
- EISSN:
-
1476-5438
- ISSN:
-
1018-4813
- Source identifiers:
-
71810
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
pubs:71810
- UUID:
-
uuid:fb2d6121-7e69-492c-865a-2f7ba6e7c681
- Local pid:
- pubs:71810
- Deposit date:
- 2012-12-19
Terms of use
- Copyright date:
- 2004
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