RAS gene mutations linked to autosomal recessive renal tubular dysgenesis
نویسندگان
چکیده
منابع مشابه
Survival over 2 years of autosomal-recessive renal tubular dysgenesis
Autosomal-recessive renal tubular dysgenesis (AR-RTD) is a rare disorder caused by a genetic defect in the renin-angiotensin system. Although AR-RTD has typically been known as a lethal disease due to refractory hypotension and renal failure immediately after birth, few cases have reported survival of the neonatal period. We report here an additional case of AR-RTD, who had novel ACE mutations ...
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ژورنال
عنوان ژورنال: Nature Clinical Practice Nephrology
سال: 2005
ISSN: 1745-8323,1745-8331
DOI: 10.1038/ncpneph0013