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    • Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy. 

      Lee, Y-R; Khan, K; Armfield-Uhas, K; Srikanth, S; Thompson, NA; Pardo, M; Yu, L; Norris, JW; Peng, Y; Gripp, KW; Aleck, KA; Li, C; Spence, E; Choi, T-I; Kwon, SJ; Park, H-M; Yu, D; Do Heo, W; Mooney, MR; Baig, SM; Wentzensen, IM; Telegrafi, A; McWalter, K; Moreland, T; Roadhouse, C; Ramsey, K; Lyons, MJ; Skinner, C; Alexov, E; Katsanis, N; Stevenson, RE; Choudhary, JS; Adams, DJ; Kim, C-H; Davis, EE; Schwartz, CE (2020-07-23)
      Intellectual disability (ID) is a heterogeneous clinical entity and includes an excess of males who harbor variants on the X-chromosome (XLID). We report rare FAM50A missense variants in the original Armfield XLID syndrome ...