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Contributors | ||
Foreword | ||
Preface | ||
1 | Introduction | 1 |
2 | Genetics of neurocutaneous disorders | 6 |
3 | Clinical recognition | 24 |
4 | Neurofibromatosis type 1 | 42 |
5 | Neurofibromatosis type 2 | 50 |
6 | Tuberous sclerosis complex | 60 |
7 | von Hippel-Lindau disease | 66 |
8 | Neurocutaneous melanosis | 71 |
9 | Nevoid basal cell carcinoma (Gorlin) syndrome | 77 |
10 | Epidermal nevus syndromes | 88 |
11 | Multiple endocrine neoplasia type 2 | 105 |
12 | Ataxia-telangiectasia | 112 |
13 | Incontinentia pigmenti | 117 |
14 | Hypomelanosis of Ito | 123 |
15 | Cowden disease | 131 |
16 | Pseudoxanthoma elasticum | 138 |
17 | Ehlers-Danlos syndromes | 144 |
18 | Hutchinson-Gilford progeria syndrome | 150 |
19 | Blue rubber bleb nevus syndrome | 154 |
20 | Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu) | 159 |
21 | Hereditary neurocutaneous angiomatosis | 166 |
22 | Cutaneous hemangiomas: vascular anomaly complex | 172 |
23 | Sturge-Weber syndrome | 179 |
24 | Lesch-Nyhan syndrome | 186 |
25 | Multiple carboxylase deficiency | 200 |
26 | Homocystinuria due to cystathionine [beta]-synthase (CBS) deficiency | 206 |
27 | Fucosidosis | 214 |
28 | Menkes disease | 222 |
29 | Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy | 234 |
30 | Cerebrotendinous xanthomatosis | 248 |
31 | Adrenoleukodystrophy | 258 |
32 | Peroxisomal disorders | 266 |
33 | Familial dysautonomia | 277 |
34 | Fabry disease | 286 |
35 | Giant axonal neuropathy | 291 |
36 | Chediak-Higashi syndrome | 296 |
37 | Encephalocraniocutaneous lipomatosis | 301 |
38 | Cerebello-trigemino-dermal dysplasia | 306 |
39 | Coffin-Siris syndrome: clinical delineation: differential diagnosis and long-term evolution | 313 |
40 | Lipoid proteinosis | 318 |
41 | Macrodactyly-nerve fibrolipoma | 323 |
Index | 327 |
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Add Neurocutaneous Disorders, The neurocutaneous disorders comprise a group of neurological disorders featuring skin lesions and often eye lesions, central and peripheral nervous system tumors, brain malformations, mental retardation, and psychiatric syndromes or seizures. This book p, Neurocutaneous Disorders to the inventory that you are selling on WonderClubX
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Add Neurocutaneous Disorders, The neurocutaneous disorders comprise a group of neurological disorders featuring skin lesions and often eye lesions, central and peripheral nervous system tumors, brain malformations, mental retardation, and psychiatric syndromes or seizures. This book p, Neurocutaneous Disorders to your collection on WonderClub |