000			04565nam a22003738i 4500
001			CR9780511545054
003			UkCbUP
005			20200124160310.0
006			m|||||o||d||||||||
007			cr||||||||||||
008			090507s2004||||enk o ||1 0|eng|d
020			_a9780511545054 (ebook)
020			_z9780521781534 (hardback)
040			_aUkCbUP _beng _erda _cUkCbUP
050	0	0	_aRL701 _b.N483 2004
082	0	0	_a616.8 _222
245	0	0	_aNeurocutaneous disorders / _cedited by E. Steve Roach and Van S. Miller.
264		1	_aCambridge : _bCambridge University Press, _c2004.
300			_a1 online resource (xvii, 338 pages) : _bdigital, PDF file(s).
336			_atext _btxt _2rdacontent
337			_acomputer _bc _2rdamedia
338			_aonline resource _bcr _2rdacarrier
500			_aTitle from publisher's bibliographic system (viewed on 05 Oct 2015).
505	0		_aIntroduction / E. Steve Roach -- Genetics of neurocutaneous disorders / Kit-Sing Au and Hope Northrup -- Clinical recognition / Golder N. Wilson -- Neurofibromatosis type 1 / Joshua Goldstein and David H. Gutmann -- Neurofibromatosis type 2 / D. Gareth R. Evans -- Tuberous sclerosis complex / E. Steve Roach -- von Hippel-Lindau disease / Noel Baker and James A. Armstrong -- Neurocutaneous melanosis / Van S. Miller -- Nevoid basal cell carcinoma (Gorlin) syndrome / Robert J. Gorlin -- Epidermal nevus syndromes / Jeffrey L. Sugarman and Ilona J. Frieden -- Multiple endocrine neoplasia type 2 / Jeffrey B. Boord and Lewis S. Blevins -- Ataxia-telangiectasia / Van S. Miller -- Incontinentia pegment / Van S. Miller -- Hypomelanosis of Ito / Ignacio Pascuel-Castroviejo.
505	0		_aXeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy / Pedro Mancias and Ian J. Butler -- Cerebrotendinous xanthomatosis / Aad Verrips, Johannes R.M. Cruysberg and Ron A. Wevers -- Adrenoleukodystrophy / Hugo W. Moser and Bjorn M. van Geel -- Peroxisomal disorders / Jeffrey Kane and E. Steve Roach -- Familial dysautonomia / Felicia B. Axelrod -- Fabry disease / E. Steve Roach -- Giant axonal neuropathy / Robert Chudnow -- Chediak-Higashi syndrome / Roula A. Farah and Zora R. Rogers -- Encephalocraniocutaneous lipomatosis / Marvin A. Fishman -- Cerebello-trigemino-dermal dysplasia / Maria Verónica Muñoz Rojas, António Carlos dos Santos and João Monteiro de Pina Neto -- Coffin-Siris syndrome: clinical delineation; differential diagnosis and long-term evolution / Jean-Pierre Fryns -- Lipoid proteinosis / Donna E. Newsome -- Macrodactyly-nerve fibrolipoma / E. Steve Roach.
505	0		_aCowden disease / G.W. Padberg -- Pseudoxanthoma elasticum / Kenneth H. Neldner and E. Steve Roach -- Ehlers-Danlos syndromes / E. Steve Roach and Carol Zimmerman -- Hutchinson-Gilford progeria syndrome / E. Steve Roach -- Blue rubber bleb nevus syndrome / John M. Anderson -- Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu) / Michael Morgan Dowling -- Hereditary neurocutaneous angiomatosis / Richard LeBlanc -- Cutaneous hemangiomas: vascular anomaly complex / Ignacio Pascual-Castroviejo -- Sturge-Weber syndrome / Anthony R. Riela and E. Steve Roach -- Lesch-Nyhan syndrome / William L. Nyhan -- Multiple carboxylase deficiency / Gerald M. So -- Homocystinuria due to cystathionine [beta]-synthase (CBS) deficiency / Raffaella de Franchis, Ennio del Giudice and Generoso Andria -- Fucosidosis / Michel Philippart -- Menkes disease / Zeynep Tümer and Nina Horn.
520			_aThe neurocutaneous disorders comprise a large group of neurological syndromes that feature skin lesions and often eye lesions, central and peripheral nervous system tumors, brain malformations, mental retardation, psychiatric symptoms, or seizures. Neurocutaneous syndromes have been known for centuries, but recent research into their cellular, biochemical and molecular-genetic basis has pointed to an essential need for a genotypic nosology. In this book, a distinguished team of editors and authors provides an authoritative, illustrated, up-to-the-minute review of the current understanding of phenotype-genotype relationships in these disorders, as well as their recognition, investigation and treatment. It will be essential reading for all neurologists as well as dermatologists, geneticists and pediatricians.
650		0	_aNeurocutaneous disorders.
650		0	_aSkin _xDiseases.
700	1		_aRoach, E. S. _q(Ewell Steve), _eeditor.
700	1		_aMiller, Van S., _eeditor.
776	0	8	_iPrint version: _z9780521781534
856	4	0	_uhttps://doi.org/10.1017/CBO9780511545054
999			_c521042 _d521040