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Autosomal Recessive Alport Syndrome Unveiled by Pregnancy.
Drury ER, Stillman IE, Pollak MR, Denker BM. Drury ER, et al. Among authors: pollak mr. Nephron. 2019;143(4):288-292. doi: 10.1159/000502147. Epub 2019 Aug 13. Nephron. 2019. PMID: 31408864 Free PMC article.
Genetic testing identified 2 novel mutations in the COL4A4 gene: a truncating frame shift mutation c.3861delinsCTC and a missense mutation c.4708G>A (p.Glu1570Lys), both of which we assert to be pathogenic. She had normal full-term delivery without complications. This c …
Genetic testing identified 2 novel mutations in the COL4A4 gene: a truncating frame shift mutation c.3861delinsCTC and a missense mutation c …