Overgrowth Syndromes: A Clinical Guide

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Giovanni Neri (Senior Genetics Scholar, JC Self Research Institute of Human Genetics, Senior Genetics Scholar, JC Self Research Institute of Human Genetics, Greenwood Genetic Center) Luigi Boccuto (Research Scientist, JC Self Research Institute of Human Genetics, Research Scientist, JC Self Research Institute of Human Genetics, Greenwood Genetic Center)

Overgrowth Syndromes

A Clinical Guide

Giovanni Neri (Senior Genetics Scholar, JC Self Research Institute of Human Genetics, Senior Genetics Scholar, JC Self Research Institute of Human Genetics, Greenwood Genetic Center), Luigi Boccuto (Research Scientist, JC Self Research Institute of Human Genetics, Research Scientist, JC Self Research Institute of Human Genetics, Greenwood Genetic Center), Roger E. Stevenson (Senior Clinical Geneticist, JC Self Research Institute of Human Genetics, Senior Clinical Geneticist, JC Self Research Institute of Human Genetics, Greenwood Genetic Center)

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English

Oxford University Press Inc
29 March 2019

Medical laboratory testing & techniques; Medical genetics

Series: Oxford Monographs on Medical Genetics

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.

By: Giovanni Neri (Senior Genetics Scholar JC Self Research Institute of Human Genetics Senior Genetics Scholar JC Self Research Institute of Human Genetics Greenwood Genetic Center), Luigi Boccuto (Research Scientist, JC Self Research Institute of Human Genetics, Research Scientist, JC Self Research Institute of Human Genetics, Greenwood Genetic Center), Roger E. Stevenson (Senior Clinical Geneticist, JC Self Research Institute of Human Genetics, Senior Clinical Geneticist, JC Self Research Institute of Human Genetics, Greenwood Genetic Center)
Imprint: Oxford University Press Inc
Country of Publication: United States
Dimensions: Height: 157mm, Width: 236mm, Spine: 18mm
Weight: 612g
ISBN: 9780190944896
ISBN 10: 0190944897
Series: Oxford Monographs on Medical Genetics
Pages: 288
Publication Date: 29 March 2019
Audience: Professional and scholarly , Undergraduate
Format: Hardback
Publisher's Status: Active

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

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.

Reviews for Overgrowth Syndromes: A Clinical Guide

"""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"