Total: 1 |
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PMID (PMCID) | ||
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18218308 |
MALE | Adult |
Association of INVS (NPHP2) mutation in an adolescent exhibiting nephronophthisis (NPH) and complete situs inversus. | ||
Okada M, Sugimoto K, Shimada Y, Fujita S, Yanagida H, Yagi K, Takemura T. Clin Nephrol. 2008;69(2):135-41. |
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He also exhibited a series of features consistent with Jeune syndrome involving asphyxiating thoracic dystrophy, heart failure and hypertension prior to advanced renal insufficiency. |