Neurocutaneous Disorders: Phakomatoses & Hamartoneoplastic Syndromes
Martino Ruggieri · Ignacio Pascual Castroviejo · Concezio Di Rocco
2009年10月 · Springer Science & Business Media
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Neurocutaneous diseases are a wide group of conditions that affect the nervous system but appear as lesions of the skin. Some of the more common entities have variable forms of expression that can confuse the diagnosis; for the rare conditions it is difficult to find descriptions in the literature. Recent insights into their cellular, biochemical and molecular genetic bases have shown the essential need for a new nosology and updated genotype-phenotype correlations. The book provides an authoritative source of knowledge about these difficult problems and bridges the gap between clinical recognition and the new molecular medicine. The editors, distinguished clinicians and geneticists, assembled an internationally renowned group of collaborators, many of them the experts who first described a particular disorder or established its present accepted definition. They have written a practical, comprehensive guide to the recognition, investigation and management of more than 60 recognised phakomatoses.
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作者简介
Dr. Martino Ruggieri, Institute of Neurological Science (ISN), National Research Council (CNR), Catania
Prof. Dr. Ignacio Pascual-Castroviejo, Professor of Paediatric Neurology, Madrid
Prof. Dr. Concezio Di Rocco, Instituto di Neurochirurgica, Univ. Cattolica del Sacro Cuore, Roma (Editor-in-Chief "Child's Nervous System")
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