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Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor.
Freund CL, Gregory-Evans CY, Furukawa T, Papaioannou M, Looser J, Ploder L, Bellingham J, Ng D, Herbrick JA, Duncan A, Scherer SW, Tsui LC, Loutradis-Anagnostou A, Jacobson SG, Cepko CL, Bhattacharya SS, McInnes RR. Freund CL, et al. Cell. 1997 Nov 14;91(4):543-53. doi: 10.1016/s0092-8674(00)80440-7. Cell. 1997. PMID: 9390563
Phenotypic manifestation in a child with 46,X,der(X)t(X;1)(q24;q31.1).
Collins KA, Eydoux P, Duncan AM, Ortenberg J, Silver K, Der Kaloustian VM. Collins KA, et al. Among authors: duncan am. Am J Med Genet. 2000 Apr 24;91(5):345-7. doi: 10.1002/(sici)1096-8628(20000424)91:5<345::aid-ajmg4>3.0.co;2-f. Am J Med Genet. 2000. PMID: 10766995
242 results