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4. Molecular analysis and long-term clinical evaluation of three siblings with Alström syndrome. Ozgül RK; Satman I; Collin GB; Hinman EG; Marshall JD; Kocaman O; Tütüncü Y; Yilmaz T; Naggert JK Clin Genet; 2007 Oct; 72(4):351-6. PubMed ID: 17850632 [TBL] [Abstract][Full Text] [Related]
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9. Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome. Frank V; den Hollander AI; Brüchle NO; Zonneveld MN; Nürnberg G; Becker C; Du Bois G; Kendziorra H; Roosing S; Senderek J; Nürnberg P; Cremers FP; Zerres K; Bergmann C Hum Mutat; 2008 Jan; 29(1):45-52. PubMed ID: 17705300 [TBL] [Abstract][Full Text] [Related]
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16. EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome. Delépine M; Nicolino M; Barrett T; Golamaully M; Lathrop GM; Julier C Nat Genet; 2000 Aug; 25(4):406-9. PubMed ID: 10932183 [TBL] [Abstract][Full Text] [Related]
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