Del i serien Oxford Monographs on Medical Genetics

Overgrowth Syndromes

A Clinical Guide

Inbunden, Engelska, 2019

AvGiovanni Neri,Luigi Boccuto,Roger E. Stevenson,Giovanni Neri,Luigi Boccuto,Roger E. Stevenson

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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. 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.

Produktinformation

Utgivningsdatum2019-04-04
Mått236 x 157 x 17 mm
Vikt612 g
FormatInbunden
SpråkEngelska
SerieOxford Monographs on Medical Genetics
Antal sidor288
FörlagOUP USA
ISBN9780190944896

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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, 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.

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 SyndromeAllessandro Mussa, Jennifer M. Kalish, Flavia Cerrato, Andrea Riccio, Giovanni Battista Ferrero 4. Sotos SyndromePablo Lapunzina, Jair A. Tenorio 5. Weaver Syndrome and EZH2-Related Overgrowth SyndromesDavid 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