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List of Contributors
Preface
Acknowledgements
1 Clinical perspectives in medical genetics 3
2 Naturally occurring genetic skin diseases in animals 22
3 The skin before birth 37
4 Epidermolysis bullosa 53
5 The ichthyoses 69
6 Erythrokeratodermas, follicular keratoses, palmoplantar keratodermas and porokeratoses 97
7 Metabolic disorders 118
8 Ectodermal dysplasias 126
9 Neurocutaneous syndromes 145
10 Disorders of collagen and elastin 165
11 Vascular disorders 182
12 Photosensitivity diseases 201
13 Pigmentary disorders 217
14 Premature aging syndromes 228
15 The hair and scalp 240
16 Hereditary and congenital nail disorders 264
17 Disorders of DNA and chromosomal instability 276
18 Primary immunodeficiency diseases 284
19 Genetic diseases predisposing to malignancy 309
20 Genetic counselling in skin disorders 319
21 Prenatal diagnosis by fetal skin biopsy 326
22 Preimplantation diagnosis 334
23 What future is there in gene therapy? 340
Index 345