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Deletion of the 5'exons of COL4A6 is not needed for the development of diffuse leiomyomatosis in patients with Alport syndrome.
Sá MJ, Fieremans N, de Brouwer AP, Sousa R, e Costa FT, Brito MJ, Carvalho F, Rodrigues M, de Sousa FT, Felgueiras J, Neves F, Carvalho A, Ramos U, Vizcaíno JR, Alves S, Carvalho F, Froyen G, Oliveira JP. Sá MJ, et al. J Med Genet. 2013 Nov;50(11):745-53. doi: 10.1136/jmedgenet-2013-101670. Epub 2013 Aug 19. J Med Genet. 2013. PMID: 23958657
Clinical and molecular diagnosis of Alport syndrome.
Kashtan CE. Kashtan CE. Proc Assoc Am Physicians. 1995 Oct;107(3):306-13. Proc Assoc Am Physicians. 1995. PMID: 8608415 Review.
An autosomal dominant variety of Alport syndrome also exists, but mutations in this form of the disease have not yet been described. Cotransmission of X-linked dominant Alport syndrome and diffuse leiomyomatosis in some families results from del …
An autosomal dominant variety of Alport syndrome also exists, but mutations in this form of the disease have not yet been described. Cotrans …
A 7-Year-Old Boy With Alport Syndrome and Vomiting.
Hinshaw A, El-Baba M. Hinshaw A, et al. Gastroenterology. 2018 Aug;155(2):e15-e16. doi: 10.1053/j.gastro.2018.01.047. Epub 2018 Feb 1. Gastroenterology. 2018. PMID: 29409873 No abstract available.