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| Title: | Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. |
| Author(s): | Vissers, L.E.L.M. (304331627)
Ravenswaaij-Arts, C.M.A. van (230344143)
Admiraal, R.J.C. (197444113)
Hurst, J.A.
Vries, L.B.A. de (157142396)
Janssen, I.M. (321517466)
Vliet, W.A. van der (321517873)
Huys, E.
Jong, P.J. de
Hamel, B.C.J. (079063632)
Schoenmakers, E.F.P.M. (298977346)
Brunner, H.G. (112228682)
Veltman, J.A. (18674692X)
Geurts van Kessel, A.H.M. (069477787) |
| Publication year: | 2004 |
| Document type: | Article / Letter to editor |
| Journal: | Nature Genetics |
| ISSN: | 1061-4036 |
| Volume: | vol. 36 |
| Issue: | iss. 9 |
| Start page: | p. 955 |
| End page: | p. 957 |
| Abstract: | CHARGE syndrome is a common cause of congenital anomalies affecting several tissues in a nonrandom fashion. We report a 2.3-Mb de novo overlapping microdeletion on chromosome 8q12 identified by array comparative genomic hybridization in two individuals with CHARGE syndrome. Sequence analysis of genes located in this region detected mutations in the gene CHD7 in 10 of 17 individuals with CHARGE syndrome without microdeletions, accounting for the disease in most affected individuals. |
| Subject: | UMCN 1.2: Molecular diagnosis, prognosis and monitoring
UMCN 3.3: Neurosensory disorders |
| Organization: | Human Genetics
Otorhinolaryngology
UMCN Extern
Paediatrics |
| Appears in Collections: | Academic bibliography
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Please use this identifier to cite or link to this item:
http://hdl.handle.net/2066/58659
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