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| Title: | A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. |
| Author(s): | Koolen, D.A. (298208490)
Vissers, L.E.L.M. (304331627)
Pfundt, R.
Leeuw, N. de (181941376)
Knight, S.J.
Regan, R.
Kooy, R.F.
Reyniers, E.
Romano, C.
Fichera, M.
Schinzel, A.
Baumer, A.
Anderlid, B.M.
Schoumans, J.
Knoers, N.V.A.M. (298974460)
Geurts van Kessel, A.H.M. (069477787)
Sistermans, E.A. (14900107X)
Veltman, J.A. (18674692X)
Brunner, H.G. (112228682)
Vries, L.B.A. de (157142396) |
| Publication year: | 2006 |
| Document type: | Article / Letter to editor |
| Journal: | Nature Genetics |
| ISSN: | 1061-4036 |
| Volume: | vol. 38 |
| Issue: | iss. 9 |
| Start page: | p. 999 |
| End page: | p. 1001 |
| Abstract: | Submicroscopic genomic copy number changes have been identified only recently as an important cause of mental retardation. We describe the detection of three interstitial, overlapping 17q21.31 microdeletions in a cohort of 1,200 mentally retarded individuals associated with a clearly recognizable clinical phenotype of mental retardation, hypotonia and a characteristic face. The deletions encompass the MAPT and CRHR1 genes and are associated with a common inversion polymorphism. |
| Subject: | UMCN 5.1: Genetic defects of metabolism |
| Organization: | Human Genetics
Dermatology
UMCN Extern |
| Appears in Collections: | Academic bibliography
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Please use this identifier to cite or link to this item:
http://hdl.handle.net/2066/49578
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