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Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes
Authors: Tuerkmen, Seval; Gillessen-Kaesbach, Gabriele; Meinecke, Peter; Albrecht, Beate; Neumann, Luitgard M.; Hesse, Volker; Palanduz, Suekrue; Balg, Stefanie; Majewski, Frank; Fuchs, Sigrun; Zschieschang, Petra; Greiwe, Monika; Mennicke, Kirsteen; Kreuz, Friedmar R.; Dehmel, Harald J.; Rodeck, Burkhard; Kunze, Juergen; Tinschert, Sigrid; Mundlos, Stefan; Horn, Denise
Date of Publication (YYYY-MM-DD): 2003-11
Title of Journal: European Journal of Human Genetics
Volume: 11
Issue / Number: 11
Start Page: 858
End Page: 865
Document Type: Article
ID: 175489.0
Familial MCA/MR syndrome due to inherited submicroscopic translocation t(18;21)(q22.1q21.3) with breakpoint at the Down syndrome critical region
Authors: Horn, Denise; Neitzel, Heidemarie; Tonnies, Holger; Kalscheuer, Vera; Kunze, Jürgen; Hinkel, Georg Klaus; Bartsch, Oliver
Date of Publication (YYYY-MM-DD): 2003-03-15
Title of Journal: American Journal of Medical Genetics Part A
Volume: 117A
Issue / Number: 3
Start Page: 236
End Page: 244
Document Type: Article
ID: 127635.0
Entries: 1-2  
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