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| Title: | Skeletal dysplasia with brachytelephalangy in a patient with a congenital disorder of glycosylation due to ALG6 gene mutations. |
| Author(s): | Drijvers, J.M.
Lefeber, D.J. (298210169)
Munnik, S.A. de (321517636)
Pfundt, R.
Leeuw, N. de (181941376)
Marcelis, C.L.M. (298979888)
Thiel, C.
Koerner, C.
Wevers, R.A. (068311508)
Morava, E. (298976846) |
| Publication year: | 2010 |
| Document type: | Article / Letter to editor |
| Journal: | Clinical Genetics |
| ISSN: | 0009-9163 |
| Volume: | vol. 77 |
| Issue: | iss. 5 |
| Start page: | p. 507 |
| End page: | p. 509 |
| Subject: | DCN 2: Functional Neurogenomics
DCN 3: Neuroinformatics
IGMD 3: Genomic disorders and inherited multi-system disorders
IGMD 4: Glycostation disorders |
| Organization: | UMCN Extern
Laboratory of Genetic, Endocrine and Metabolic Diseases
Neurology
Human Genetics
Dermatology
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/2066/89213
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