PAX2 variant associated with bilateral kidney agenesis and broad intrafamilial disease variability
نویسندگان
چکیده
منابع مشابه
A common variant of the PAX2 gene is associated with reduced newborn kidney size.
Congenital nephron number ranges widely in the human population. Suboptimal nephron number may be associated with increased risk for essential hypertension and susceptibility to renal injury, but the factors that set nephron number during kidney development are unknown. In renal-coloboma syndrome, renal hypoplasia and reduced nephron number are due to heterozygous mutations of the PAX2 gene. Th...
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ژورنال
عنوان ژورنال: Clinical Kidney Journal
سال: 2020
ISSN: 2048-8513
DOI: 10.1093/ckj/sfaa013