| 书目名称 | Multidisciplinary Approach to Neurofibromatosis Type 1 | | 编辑 | Gianluca Tadini,Eric Legius,Hilde Brems | | 视频video | | | 概述 | Provides a comprehensive tool and updated account of this common neuroectodermal disorder, from bench to bedside.Written by leading clinicians and scientists, covering all aspects of NF1 in a multidis | | 图书封面 |  | | 描述 | .This volume offers an update of the clinical signs, diagnostic criteria (including molecular diagnosis) and targeted therapies for a particular type of genodermatosis, providing a handy and unique tool for early diagnosis. In recent years, our understanding of genodermatosis and neurocutaneous syndromes has increased, but although Type 1 Neurofibromatosis (NF1) is the most common neuroectodermal disorder and involves a large number of patients and medical disciplines, this syndrome remains underestimated, often misdiagnosed thus leading to inaccurate treatment. The literature on the molecular and pathogenetic aspects is ample, but current clinical approaches, classification, diagnostic criteria and treatment protocols are outdated, creating difficulties in early diagnosis and treatment. As such, a chapter is devoted renewing current diagnostic criteria; it includes clinical and molecular data, to offer a sound, updated discussion basis for a consensus conference..NF1 is a “time-dependent” disorder, meaning that the onset of clinical signs are closely linked to patient age and the book discusses this particularly neglected aspect extensively, as well as the latest molecular diagno | | 出版日期 | Book 2020 | | 关键词 | genodematosis; neurocutaneous syndrome; neurofibromas; nevus anemicus; fibrous dysplasia; macrocephaly; hy | | 版次 | 1 | | doi | https://doi.org/10.1007/978-3-319-92450-2 | | isbn_ebook | 978-3-319-92450-2 | | copyright | Springer Nature Switzerland AG 2020 |
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发表于 2025-3-21 19:31:24
