Sotos syndrome
Definition:
References:
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[1]. Aleksandra Jezela-Stanek, et al. Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2016 Mar;160(1):161-7. [Content Brief]
[2]. Geneviève Baujat, et al. Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome. Am J Hum Genet. 2004 Apr;74(4):715-20. [Content Brief]
[3]. Jenny Douglas, et al. NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes. Am J Hum Genet. 2003 Jan;72(1):132-43. [Content Brief]
[4]. M Rio, et al. Spectrum of NSD1 mutations in Sotos and Weaver syndromes. J Med Genet. 2003 Jun;40(6):436-40. [Content Brief]
[5]. Mariam Almuriekhi, et al. Loss-of-Function Mutation in APC2 Causes Sotos Syndrome Features. Cell Rep. 2015 Mar 10;10(9):1585-1598. [Content Brief]
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