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Velo-Cardio-Facial Syndrome: A Model for Understanding Microdeletion Disorders - Couverture souple

 
9780521184328: Velo-Cardio-Facial Syndrome: A Model for Understanding Microdeletion Disorders
Couverture souple
ISBN 10 : 0521184320 ISBN 13 : 9780521184328
Editeur : Cambridge University Press, 2011

Synopsis

Velo-Cardio-Facial Syndrome (VCFS) is a genetic disorder caused by the deletion of part of chromosome 22. It occurs in approximately one in 4000 births and there are now more than 100 physical phenotypic features reported. VCFS affects every major system in the body and this 2005 book was the first to describe its full clinical impact. It has been authored by leading international VCFS clinicians/researchers. The focus is on clinical issues with chapters devoted to psychiatric disorders (with the sufferer showing very high levels of schizophrenia), neuroimaging, speech and language disorders, as well as cardiac, ENT, gastrointestinal, ophthalmic and urological manifestations. Molecular genetics, immunodeficiency and genetic counselling are also covered, and practical approaches to diagnosis and treatment described. As VCFS is seen as a paradigm for other microdeletion disorders, this book will not just appeal to clinicians seeing VCFS patients, but also to those interested in other genetic disorders.

Les informations fournies dans la section « Synopsis » peuvent faire référence à une autre édition de ce titre.

Revue de presse

Review of the hardback: 'This is a wonderful, highly specialized tool for clinicians in general. It is a great source for multiple specialities (pediatric cardiology, ENT, medical genetics, etc.). The work presented here is unique, with no other similar books in the market. The integration of the different aspects of VCFS makes this a great instrument for multidisciplinary teams.' Doody's Book Review Service

Review of the hardback: '... this book is a valuable trove of information for professionals and parents alike, and one that can be referred to for up-to-date information on all aspects of the syndrome. It is extremely detailed, yet clear, and some of the more difficult concepts are explained in a very comprehensible way.' Psychological Medicine

Review of the hardback: 'Clinicians and scientists of different disciplines will all enjoy and benefit from reading this book.' Journal of Human Genetics

Review of the hardback: 'The strength of this book lies in the depth of the clinical information. ... clinicians, carers and parents will view this collection of clinical reviews as something of a treasure trove. The chapters are all well written, concise and informed. ...definitely a book for the clinical library ...' Human Genetics

Présentation de l'éditeur

Velo-Cardio-Facial Syndrome (VCFS) is a genetic disorder caused by the deletion of part of chromosome 22. It occurs in approximately one in 4000 births and there are now more than 100 physical phenotypic features reported. VCFS affects every major system in the body and this 2005 book was the first to describe its full clinical impact. It has been authored by leading international VCFS clinicians/researchers. The focus is on clinical issues with chapters devoted to psychiatric disorders (with the sufferer showing very high levels of schizophrenia), neuroimaging, speech and language disorders, as well as cardiac, ENT, gastrointestinal, ophthalmic and urological manifestations. Molecular genetics, immunodeficiency and genetic counselling are also covered, and practical approaches to diagnosis and treatment described. As VCFS is seen as a paradigm for other microdeletion disorders, this book will not just appeal to clinicians seeing VCFS patients, but also to those interested in other genetic disorders.

Les informations fournies dans la section « A propos du livre » peuvent faire référence à une autre édition de ce titre.

Éditeur
Cambridge University Press
Date d'édition
2011
Langue
anglais
ISBN 10 
0521184320
ISBN 13 
9780521184328
Reliure
Broché
Nombre de pages
258
Éditeur
Murphy Kieran C.
Coordonnées du fabricant
non disponible
Personne responsable
Avery
https://www.avery.fr/

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