this book provides a well-founded and comprehensive overview of the latest scientific findings on overgrowth syndrome. It is a valuable, concise reference work for all those working in clinics and practices in the diagnosis, treatment, and management of patients with overgrowth syndromes and genetic family counseling.

Dorothea Wand, European Journal of Human Genetics

Part of the Oxford Monographs on Medical Genetics, this concise book is a true specialized clinical guide to overgrowth ... Currently there is not a comparable book that deals only with overgrowth conditions. This is a unique clinical guide that is a must-have book for clinical geneticists.

Luis F Escobar, MD., MS., Doodys

Overgrowth Syndromes is a comprehensive clinical guide to the well-defined genetic disorders (and others that are less well-defined) for which somatic overgrowth is a major manifestation. It details the unique characteristics and known causative genes for this class of disorders, offering clinicians an expert resource for both clinical diagnosis and laboratory confirmation. Assembled by the world's leading experts on overgrowth, this volume maximizes clinical utility without sacrificing nuance or rigor. It codifies the last decade's sweeping advances in understanding general and segmental overgrowth, including the latter's mosaic nature and phenotypic variability. It is an essential resource for clinicians navigating this set of conditions from clinical presentation all the way to counseling and anticipatory management.
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Overgrowth Syndromes is a comprehensive clinical guide to the well-defined genetic disorders (and others that are less well-defined) for which somatic overgrowth is a major manifestation. It details the unique characteristics and known causative genes for this class of disorders, offering clinicians an expert resource for both clinical diagnosis and laboratory confirmation.
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Preface 1. Overview on Overgrowth and Overgrowth Syndromes Luigi Boccuto, Giovanni Neri, Roger E. Stevenson 2. Selection of Less-Prevalent Overgrowth Syndromes Roger E. Stevenson, Bryan D. Hall 3. Beckwith-Wiedemann Syndrome Allessandro Mussa, Jennifer M. Kalish, Flavia Cerrato, Andrea Riccio, Giovanni Battista Ferrero 4. Sotos Syndrome Pablo Lapunzina, Jair A. Tenorio 5. Weaver Syndrome and EZH2-Related Overgrowth Syndromes David D. Weaver 6. Simpson-Golabi-Behmel Syndrome Giovanni Neri 7. Perlman Syndrome Giovanni Neri 8. Malan Syndrome Manuela Priolo, Martin Zenker, Raoul C. Hennekam 9. PTEN-Related Overgrowth Syndromes Lamis Yehia, Joanne Ngeow, Charis Eng 10. Lateralized Overgrowth - Hemihypertrophy and Hemihyperplasia Jennifer M. Kalish, Giovanni Battista Ferrero, Alessandro Mussa 11. Proteus Syndrome Leslie G. Biesecker 12. PIK3CA-Related Overgrowth Spectrum Kim M. Keppler-Noreuil 13. Vascular Anomalies Lara Wine Lee, Cameron Trenor Index
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"this book provides a well-founded and comprehensive overview of the latest scientific findings on overgrowth syndrome. It is a valuable, concise reference work for all those working in clinics and practices in the diagnosis, treatment, and management of patients with overgrowth syndromes and genetic family counseling." -- Dorothea Wand, European Journal of Human Genetics "Part of the Oxford Monographs on Medical Genetics, this concise book is a true specialized clinical guide to overgrowth ... Currently there is not a comparable book that deals only with overgrowth conditions. This is a unique clinical guide that is a must-have book for clinical geneticists." -- Luis F Escobar, MD., MS., Doodys
Les mer
Selling point: A definitive clinical reference for diagnosis and laboratory testing of generalized and segmental overgrowth syndromes Selling point: Highly illustrated and referenced, including clinical guidelines and causative genes Selling point: Assembled by a global team of the world's experts in overgrowth syndromes Selling point: Accounts for all aspects of overgrowth phenotypes, including those that persist across the lifespan and those that return to normal range by adulthood Selling point: Provides a comprehensive survey of the genetic alterations and molecular mechanisms underlying the major overgrowth syndromes Selling point: Includes consideration for genetic counseling and anticipatory management
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Giovanni Neri, MD, is a Senior Genetics Scholar at the JC Self Research Institute of Human Genetics, Greenwood Genetic Center; and Professor (retired) of Medical Genetics, Università Cattolica del S. Cuore, Roma. Luigi Boccuto, MD, is a Research Scientist at the JC Self Research Institute of Human Genetics, Greenwood Genetic Center. Roger E. Stevenson, MD, is a Senior Clinical Geneticist at the JC Self Research Institute of Human Genetics, Greenwood Genetic Center.
Les mer
Selling point: A definitive clinical reference for diagnosis and laboratory testing of generalized and segmental overgrowth syndromes Selling point: Highly illustrated and referenced, including clinical guidelines and causative genes Selling point: Assembled by a global team of the world's experts in overgrowth syndromes Selling point: Accounts for all aspects of overgrowth phenotypes, including those that persist across the lifespan and those that return to normal range by adulthood Selling point: Provides a comprehensive survey of the genetic alterations and molecular mechanisms underlying the major overgrowth syndromes Selling point: Includes consideration for genetic counseling and anticipatory management
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Produktdetaljer

ISBN
9780190944896
Publisert
2019
Utgiver
Vendor
Oxford University Press Inc
Vekt
612 gr
Høyde
157 mm
Bredde
236 mm
Dybde
18 mm
Aldersnivå
P, 06
Språk
Product language
Engelsk
Format
Product format
Innbundet
Antall sider
288

Om bidragsyterne

Giovanni Neri, MD, is a Senior Genetics Scholar at the JC Self Research Institute of Human Genetics, Greenwood Genetic Center; and Professor (retired) of Medical Genetics, Universita Cattolica del S. Cuore, Roma. Luigi Boccuto, MD, is a Research Scientist at the JC Self Research Institute of Human Genetics, Greenwood Genetic Center. Roger E. Stevenson, MD, is a Senior Clinical Geneticist at the JC Self Research Institute of Human Genetics, Greenwood Genetic Center.