| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 3850514 | American Journal of Kidney Diseases | 2009 | 6 Pages |
Abstract
The presence of congenital malformations in the case series confirms the crucial role of NPHP3 in early embryonic development of the kidneys and urinary tract. The study also highlights the subtle variations in phenotypic expression in a cohort of patients with the same mutation in NPHP3.
Keywords
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Nephrology
Authors
Michael A. PhD, Harold E. PhD, MD, Leroy Cross, Mervin Helmuth, Andrew H. PhD,