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    • Familial gigantism caused by an NSD1 mutation. 

      van Haelst, MM; Hoogeboom, JJ; Baujat, G; Brüggenwirth, HT; Van de Laar, I; Coleman, K; Rahman, N; Niermeijer, MF; Drop, SL; Scambler, PJ (2005-11)
      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. ...