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

Couverture rigide

ISBN 10 : 0521821851 ISBN 13 : 9780521821858

Editeur : Cambridge University Press, 2005

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.

A propos du livre

À propos de l'auteur

D.O.B 14.09.1963. D.O.B 6.11.1958. BUPA Foundation Special Merit award; Guthrie medal of the British Paediatric Association. Elected Fellow of the Academy of Medical Sciences.

Détails de l'édition

• Éditeur: Cambridge University Press
• Date d'édition: 2005
• Langue: anglais
• ISBN 10: 0521821851
• ISBN 13: 9780521821858
• Reliure: Relié
• Nombre de pages: 256
• Éditeur: Murphy Kieran C., Scambler Peter J.
• Coordonnées du fabricant: non disponible
• Personne responsable: Avery; https://www.avery.fr/; ; chemin des peupliers 27; Dardilly; France