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Overgrowth Syndromes - 
      Giovanni Neri
    
      Luigi Boccuto
    
      Roger E. Stevenson

Overgrowth Syndromes

A Clinical Guide

Giovanni Neri (Redaktør) ; Luigi Boccuto (Redaktør) ; Roger E. Stevenson (Redaktør)

«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. Les mer
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Vår pris: 1215,-

(Innbundet) Fri frakt!
Leveringstid: Sendes innen 21 dager

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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Utgitt:
Forlag: Oxford University Press Inc
Innbinding: Innbundet
Språk: Engelsk
ISBN: 9780190944896
Format: 24 x 16 cm
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«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

«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
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, 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.