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· 분류 : 외국도서 > 과학/수학/생태 > 과학 > 생명과학 > 유전학/유전체학
· ISBN : 9781119432678
· 쪽수 : 1104쪽
· 출판일 : 2020-12-17
목차
This fourth edition of the book Cassidy’s and Allanson’sManagement of Genetic Syndromes will be unchanged in character but will be current in its content. It will include updated information on identification (including newly-developed diagnostic criteria), genetic basis and diagnostic testing, and management for each of the 59 included disorders. The aims of this book have not changed: to provide a resource on diagnosis, genetic counseling and management for medical professionals (medical geneticists, genetic counselors, and primary care providers) caring for individuals of all ages affected by relatively common genetic syndromes. It will continue to exclude traditional metabolic disorders, which are well-covered in other resources. The format will remain essentially unchanged, though we will once again examine the feasibility of a brief tabular summary of recommended evaluations at the end of each chapter. (Ideally these concise summaries could be available and freely accessible online). Again, each chapter will be organized in the same manner and cover the same general topics.
In addition, the editors will increase the number of disorders slightly to approximately 60 as a result of new expertise, newly recognized conditions, and conditions whose frequency has recently been recognized to be higher than previously realized.
- The organization of chapters will remain alphabetical (the first chapter being the Aarskog syndrome; the Introduction will just follow the Preface and be part of the front matter).
- Within the chapters, the organization will remain the same: Introduction (including incidence; diagnostic criteria; etiology, pathogenesis and genetics; diagnostic testing; differential diagnosis); Manifestations and Management (by system); Acknowledgements: and Resources, followed by a limited number of references.
- If a tabular summary is added, it will come before the Acknowledgements.
- The Table of Contents will be approximately the same, with the insertion of one new chapter, except for any changes in authors.
- At this point, only one new disorder will be added, including idic(15) syndrome. Commitments from authors have not been solicited, but we are constantly solicited by workers in the field to include their areas of expertise.
- The editors will request of each chapter author(s) a commitment to update their chapter (with one or two exceptions, in which we will obtain different—better—authors). They will maintain a list of alternative authors should any of the authors decide they cannot commit to the updating, but they do not anticipate this occurring often.















