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Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes.
Türkmen S, Gillessen-Kaesbach G, Meinecke P, Albrecht B, Neumann LM, Hesse V, Palanduz S, Balg S, Majewski F, Fuchs S, Zschieschang P, Greiwe M, Mennicke K, Kreuz FR, Dehmel HJ, Rodeck B, Kunze J, Tinschert S, Mundlos S, Horn D. Türkmen S, et al. Among authors: greiwe m. Eur J Hum Genet. 2003 Nov;11(11):858-65. doi: 10.1038/sj.ejhg.5201050. Eur J Hum Genet. 2003. PMID: 14571271
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.
Lüdecke HJ, Schaper J, Meinecke P, Momeni P, Gross S, von Holtum D, Hirche H, Abramowicz MJ, Albrecht B, Apacik C, Christen HJ, Claussen U, Devriendt K, Fastnacht E, Forderer A, Friedrich U, Goodship TH, Greiwe M, Hamm H, Hennekam RC, Hinkel GK, Hoeltzenbein M, Kayserili H, Majewski F, Mathieu M, McLeod R, Midro AT, Moog U, Nagai T, Niikawa N, Orstavik KH, Plöchl E, Seitz C, Schmidtke J, Tranebjaerg L, Tsukahara M, Wittwer B, Zabel B, Gillessen-Kaesbach G, Horsthemke B. Lüdecke HJ, et al. Among authors: greiwe m. Am J Hum Genet. 2001 Jan;68(1):81-91. doi: 10.1086/316926. Epub 2000 Dec 7. Am J Hum Genet. 2001. PMID: 11112658 Free PMC article.
Short stature in a mother and daughter with terminal deletion of Xp22.3.
Schwinger E, Kirschstein M, Greiwe M, Konermann T, Orth U, Gal A. Schwinger E, et al. Among authors: greiwe m. Am J Med Genet. 1996 May 3;63(1):239-42. doi: 10.1002/(SICI)1096-8628(19960503)63:1<239::AID-AJMG41>3.0.CO;2-M. Am J Med Genet. 1996. PMID: 8723116
[Diagnosis of an Ullrich-Turner syndrome in pension evaluation].
Kreft B, Greiwe M, Schreiber M, Wiedemann G, Fehm HL. Kreft B, et al. Among authors: greiwe m. Dtsch Med Wochenschr. 1994 Aug 19;119(33):1115-8. doi: 10.1055/s-2008-1058811. Dtsch Med Wochenschr. 1994. PMID: 8070332 German.