Campeau, PM; Kasperaviciute, D; Lu, JT; Burrage, LC; Kim, C; Hori, M; Powell, BR; ... Sisodiya, SM; + view all Campeau, PM; Kasperaviciute, D; Lu, JT; Burrage, LC; Kim, C; Hori, M; Powell, BR; Stewart, F; Félix, TM; van den Ende, J; Wisniewska, M; Kayserili, H; Rump, P; Nampoothiri, S; Aftimos, S; Mey, A; Nair, LD; Begleiter, ML; De Bie, I; Meenakshi, G; Murray, ML; Repetto, GM; Golabi, M; Blair, E; Male, A; Giuliano, F; Kariminejad, A; Newman, WG; Bhaskar, SS; Dickerson, JE; Kerr, B; Banka, S; Giltay, JC; Wieczorek, D; Tostevin, A; Wiszniewska, J; Cheung, SW; Hennekam, RC; Gibbs, RA; Lee, BH; Sisodiya, SM; - view fewer (2014) The genetic basis of DOORS syndrome: an exome-sequencing study. Lancet Neurology , 13 (1) pp. 44-58. 10.1016/S1474-4422(13)70265-5.

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Abstract

Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS) syndrome is a rare autosomal recessive disorder of unknown cause. We aimed to identify the genetic basis of this syndrome by sequencing most coding exons in affected individuals.

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