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10. The complete loss of function of the SMS gene results in a severe form of Snyder-Robinson syndrome. Larcher L; Norris JW; Lejeune E; Buratti J; Mignot C; Garel C; Keren B; Schwartz CE; Whalen S Eur J Med Genet; 2020 Apr; 63(4):103777. PubMed ID: 31580924 [TBL] [Abstract][Full Text] [Related]
12. Digestive involvement in a severe form of Snyder-Robinson syndrome: Possible expansion of the phenotype. Dontaine P; Kottos E; Dassonville M; Balasel O; Catros V; Soblet J; Perlot P; Vilain C Eur J Med Genet; 2021 Jan; 64(1):104097. PubMed ID: 33186760 [TBL] [Abstract][Full Text] [Related]
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19. New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson X-linked recessive mental retardation syndrome. de Alencastro G; McCloskey DE; Kliemann SE; Maranduba CM; Pegg AE; Wang X; Bertola DR; Schwartz CE; Passos-Bueno MR; Sertié AL J Med Genet; 2008 Aug; 45(8):539-43. PubMed ID: 18550699 [TBL] [Abstract][Full Text] [Related]