Germline mosaicism is a pitfall in the diagnosis of “sporadic” X-linked Alport syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Nephrology
Link
http://link.springer.com/article/10.1007/s40620-018-0518-y/fulltext.html
Reference13 articles.
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2. Plant KE, Boye E, Green PM, Vetrie D, Flinter FA (2000) Somatic mosaicism associated with a mild Alport syndrome phenotype. J Med Genet 37(3):238–239
3. Krol RP, Nozu K, Nakanishi K, Iijima K, Takeshima Y, Fu XJ, Nozu Y, Kaito H, Kanda K, Matsuo M, Yoshikawa N (2008) Somatic mosaicism for a mutation of the COL4A5 gene is a cause of mild phenotype male Alport syndrome. Nephrol Dial Transplant 23(8):2525–2530. https://doi.org/10.1093/ndt/gfn005
4. Fu XJ, Nozu K, Kaito H, Ninchoji T, Morisada N, Nakanishi K, Yoshikawa N, Ohtsubo H, Matsunoshita N, Kamiyoshi N, Matsumura C, Takagi N, Maekawa K, Taniguchi-Ikeda M, Iijima K (2016) Somatic mosaicism and variant frequency detected by next-generation sequencing in X-linked Alport syndrome. Eur J Hum Genet 24(3):387–391. https://doi.org/10.1038/ejhg.2015.113
5. Bruttini M, Vitelli F, Meloni I, Rizzari G, Volpe MD, Mazzucco G, Marchi MD, Renieri A (2000) Mosaicism in Alport syndrome with genetic counselling. J Med Genet 37(9):717–719
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