Identification of the CFAP410 Pathogenic Variants in a Korean Patient with Autosomal Recessive Retinitis Pigmentosa and Skeletal Anomalies

참고문헌 (5)

1. Ferrari S, "Retinitis pigmentosa : genes and disease mechanisms", Curr Genomics, 12, pp.238~249 (2011)
2. Suga A, "Identification of novel mutations in the LRR-Cap domain of C21orf2 in Japanese patients with retinitis pigmentosa and cone-rod dystrophy", Invest Ophthalmol Vis Sci, 57, pp.4255~4263 (2016)
3. Richards S, "Standards and guidelines for the interpretation of sequence variants : a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology", Genet Med, 17, pp.405~424 (2015)
4. Wang Z, "Axial spondylometaphyseal dysplasia is caused by C21orf2 mutations", PLoS One, 11, pp.e0150555~ (2016)
5. Khan AO, "C21orf2is mutated in recessive early-onset retinal dystrophy with macular staphyloma and encodes a protein that localises to the photoreceptor primary cilium", Br J Ophthalmol, 99, pp.1725~1731 (2015)

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