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Table of Contents:

List of contributors
1 Introduction to clinical genetics 1
2 Renal function and management of renal disease 27
3 Renal development 57
4 Kidney and lower urinary tract malformations 89
5 Urinary tract defects and chromosomal disorders 117
6 Dysmorphic syndromes with renal involvement 147
7 Primary hereditary nephropathies 167
8 Alport syndrome 183
9 Autosomal dominant polycystic kidney disease 203
10 Autosomal recessive polycystic kidney disease 239
11 Cystic renal diseases 253
12 Primary inherited metabolic diseases of the kidney 261
13 Genetics of stone forming diseases 281
14 Disorders of tubular transport 307
15 Tuberous sclerosis complex 337
16 Neurofibromatosis 349
17 The Bardet-Biedl and Alstrom syndromes 361
18 Genetic syndromes with a renal component 399
19 The genetics of glomerulonephritis and systemic disorders affecting the kidney 417
20 Wilms tumour and the Wilms tumour predisposition syndromes 455
21 Von Hippel-Lindau disease 487
22 Inherited predispositions to kidney cancer
23 Gene therapy in renal disease 511
24 Gene therapy for renal cancer 515
Index 557