References
- Han KH, Park JE, Ki CS. De novo mutations in COL4A5 identified by whole exome sequencing in two girls with Alport syndrome in Korea. Korean J Pediatr Forthcoming 2018.
- Gubler M, Levy M, Broyer M, Naizot C, Gonzales G, Perrin D, et al. Alport's syndrome. A report of 58 cases and a review of the literature. Am J Med 1981;70:493-505. https://doi.org/10.1016/0002-9343(81)90571-4
- Savige J, Gregory M, Gross O, Kashtan C, Ding J, Flinter F. Expert guidelines for the management of Alport syndrome and thin basement membrane nephropathy. J Am Soc Nephrol 2013;24:364-75. https://doi.org/10.1681/ASN.2012020148
- Kruegel J, Rubel D, Gross O. Alport syndrome--insights from basic and clinical research. Nat Rev Nephrol 2013;9:170-8. https://doi.org/10.1038/nrneph.2012.259
- Savige J, Colville D, Rheault M, Gear S, Lennon R, Lagas S, et al. Alport syndrome in women and girls. Clin J Am Soc Nephrol 2016;11:1713-20. https://doi.org/10.2215/CJN.00580116
- Jais JP, Knebelmann B, Giatras I, De Marchi M, Rizzoni G, Renieri A, et al. X-linked Alport syndrome: natural history and genotypephenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study. J Am Soc Nephrol 2003;14:2603-10. https://doi.org/10.1097/01.ASN.0000090034.71205.74
- Savige J, Sheth S, Leys A, Nicholson A, Mack HG, Colville D. Ocular features in Alport syndrome: pathogenesis and clinical significance. Clin J Am Soc Nephrol 2015;10:703-9. https://doi.org/10.2215/CJN.10581014
- Kashtan CE, Kleppel MM, Gubler MC. Immunohistologic findings in Alport syndrome. Contrib Nephrol 1996;117:142-53. https://doi.org/10.1159/000424811
- Hertz JM, Juncker I, Marcussen N. MLPA and cDNA analysis improves COL4A5 mutation detection in X-linked Alport syndrome. Clin Genet 2008;74:522-30. https://doi.org/10.1111/j.1399-0004.2008.01051.x
- Gross O, Netzer KO, Lambrecht R, Seibold S, Weber M. Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinical counselling. Nephrol Dial Transplant 2002;17:1218-27. https://doi.org/10.1093/ndt/17.7.1218
Cited by
- Clinical Characteristics and Long-Term Prognosis of Alport Syndrome: A Retrospective Single-Center Study vol.24, pp.2, 2020, https://doi.org/10.3339/jkspn.2020.24.2.91