منابع مشابه
Inherited Gitelman syndrome Inherited Gitelman syndrome is caused by mutations in SLC12A3 gene encoding NCCT
Gitelman syndrome is an autosomal recessive disease characterized by hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria 1) . This disorder is caused by mutation in the SLC12A3 gene, which encodes the thiazide-sensitive NaCl cotransporter (NCCT). Acquired renal tubular disorder can be observed in various disease processes, especially autoimmune diseases 2-10) . Acquired Gitelman ...
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Patients with the Denys-Drash syndrome (Wilms' tumor, genital anomalies, and nephropathy) have been demonstrated to carry de novo constitutional mutations in WT1, the Wilms' tumor gene at chromosome 11p13. We report three new cases, two carrying a previously described WT1 exon 9 mutation and one with a novel WT1 exon 8 mutation. However, unlike patients in previous reports, one of our three pat...
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background: severe preeclampsia is a quite well-known entity with high incidence of both maternal and fetal morbidity and mortality. although little is known about its etiology, inherited disorders of hemostasis and antiphospholipid syndrome have been postulated as common causes. the present study was conducted to evaluate the association of these two entities with preeclampsia in a group of ir...
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ژورنال
عنوان ژورنال: Cardiovascular Innovations and Applications
سال: 2016
ISSN: 2009-8618
DOI: 10.15212/cvia.2016.0002