6533b7d5fe1ef96bd1264517

RESEARCH PRODUCT

To die or not to die ? un modèle de la signalisation dichotomique de TNF-R1

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1. Kurotaki N, Imaizumi K, Harada N, et al. Haplo insufficiency of NSD1 causes Sotos syndrome. Nature 2002 ; 30 : 305-6. 2. Douglas J, Hanks S, Temple K, et al. NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgroth phenotypes. Am J Hum Genet 2003 ; 27 : 132-43. 3. Rio M, Clech L, Amiel J, et al. Spectrum of NSD1 mutations in Sotos and Weaver syndromes. J Med Genet 2003 ; 40 : 436-40. 4. Imaizumi K, Kimura J, Matsuo M, et al. Sotos syndrome associated with a de novo balanced reciprocal translocation t(5 ;8)(q35 ;q24.1). Am J Hum Genet 2002 ; 107 : 58-60. 5. Opitz JM, Weaver DW, Reynolds JF. The syndrome of Sotos and Weaver : reports and review. Am J Med Genet 1998 ; 79 : 294-304.