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| Title: | Familial gigantism caused by an NSD1 mutation. |
| Author(s): | Haelst, M.M. van
Hoogeboom, J.J.
Baujat, G.
Bruggenwirth, H.T.
Laar, I. van de
Coleman, K.
Rahman, N.
Niermeijer, M.F. (067934250)
Drop, S.L.
Scambler, P.J. |
| Publication year: | 2005 |
| Document type: | Article / Letter to editor |
| Journal: | American Journal of Medical Genetics Part A |
| ISSN: | 1552-4825 |
| Volume: | vol. 139 |
| Issue: | iss. 1 |
| Start page: | p. 40 |
| End page: | p. 44 |
| Abstract: | A three-generation family with autosomal dominant segregation of a novel NSD1 mutation (6605G --> A, resulting in Cys2202Tyr) is reported. Haploinsufficiency of NSD1 has been identified as the major cause of Sotos syndrome. The overgrowth condition (MIM 117550) is characterized by facial anomalies, macrocephaly, advanced bone age, and learning disabilities. Manifestations in the present family include dramatically increased height, weight, and head circumference together with a long face, large mandible, and large ears, but mental deficiency was absent. |
| Subject: | UMCN 5.1: Genetic defects of metabolism |
| Organization: | UMCN Extern
Human Genetics |
| Appears in Collections: | Academic bibliography
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Please use this identifier to cite or link to this item:
http://hdl.handle.net/2066/47843
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