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Inherited renal disease 

Inherited renal disease
Chapter:
Inherited renal disease
Author(s):

Katherine A. Hillman

and Adrian S. Woolf

DOI:
10.1093/med/9780199699254.003.0004
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date: 09 April 2020

Chapter 4 covers landmark papers that cover genetic aspects of renal development, cystic disease, and glomerular and tubular disorders. We have chosen to present them chronologically, as this highlights the importance of early studies based on careful and thorough clinical and laboratory observations. Such studies have laid the phenotypic groundwork that facilitated the explosion of knowledge about single-gene disorders from the mid-1980s onwards. In particular, in papers 4.6 and 4.10, we see how investigating aberrant biological pathways controlled by mutated genes opens the potential for therapeutic intervention.

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