Article
Homozygous mutation in the NPHP3 gene causing foetal nephronophthisis.
Nephrology (Carlton, Vic.) - 1 Oct 2017
Abdullah Uzma, Farooq Muhammad, Fatima Ambrin, Tauseef Wasima, Sarwar Yasra, Nuri Mmh, Tommerup Niels, Baig Shahid M
Abstract excerpt
We present a case of a foetal sonographic finding of hyper-echogenic kidneys, which led to a strategic series of genetic tests and identified a homozygous mutation (c.424C > T, p. R142*) in the NPHP3 gene. Our study provides a rare presentation of NPHP3-related ciliopathy and adds to the mutation spectrum of the gene, being the first one from Pakistani population. With a thorough literature review, it also...
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