A woman with Alport syndrome in compound-heterozygous state in pregnancy: lessons for the clinical nephrologist
Author:
Funder
National Science Foundation of China
Publisher
Springer Science and Business Media LLC
Subject
Nephrology
Link
https://link.springer.com/content/pdf/10.1007/s40620-022-01318-9.pdf
Reference8 articles.
1. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E et al (2015) 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(5):405–424. https://doi.org/10.1038/gim.2015.30
2. Wang X, Zhang Y, Ding J, Wang F (2021) mRNA analysis identifies deep intronic variants causing Alport syndrome and overcomes the problem of negative results of exome sequencing. Sci Rep 11:18097. https://doi.org/10.1038/s41598-021-97414-0
3. Brunini F, Zaina B, Gianfreda D, Ossola W, Giani M, Fedele L, Messa P, Moroni G (2018) Alport syndrome and pregnancy: a case series and literature review. Arch Gynecol Obstet 297:1421–1431. https://doi.org/10.1007/s00404-018-4720-x
4. Kitanovska BG, Gerasimovska V, Livrinova V (2016) Two pregnancies with a different outcome in a patient with Alport syndrome. Open Access Maced J Med Sci 4:439–442. https://doi.org/10.3889/oamjms.2016.073
5. Alessi M, Fabris A, Zambon A, Cremasco D, Muraro E, Dosa L, Anglani F, Del Prete D (2014) Pregnancy in Alport syndrome: a report of two differently-evolving cases. J Obstet Gynaecol. https://doi.org/10.3109/01443615.2013.834299
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