Homozygous Frameshift Mutation in the BBS10 Gene Causing Bardet–Biedl Syndrome with Rod-Cone Dystrophy: A Case Report

참고문헌 (5)

1. Weihbrecht K, "Keeping an eye on bardet-biedl syndrome : a comprehensive review of the role of Bardet-Biedl syndrome genes in the eye", Med Res Arch, 5 (2017)[DOI]
2. Gupta N, "Bardet-Biedl syndrome:the pleiotropic role of the chaperonin-like BBS6, 10, and 12 proteins", Am J Med Genet C Semin Med Genet, 190, pp.9~19 (2022)
3. Grudzinska Pechhacker MK, "Comparative natural history of visual function from patients with biallelic variants in BBS1 and BBS10", Invest Ophthalmol Vis Sci, 62, pp.26~ (2021)
4. Kim YH, "Retinitis pigmentosa associated with Bardet-Biedl syndrome with BBS9 gene mutation in a Korean patient", Korean J Ophthalmol, 34, pp.94~95 (2020)
5. Rehm HL, "ACMG clinical laboratory standards for next-generation sequencing", Genet Med, 15, pp.733~747 (2013)

관련 논문AI추천