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.
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.
Recenzijos
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 *
| Preface |
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vii | |
| Contributors |
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xi | |
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1 Overview on Overgrowth and Overgrowth Syndromes |
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1 | (18) |
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2 Selection of Less-Prevalent Overgrowth Syndromes |
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19 | (20) |
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3 Beckwith-Wiedemann Syndrome |
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39 | (34) |
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Giovanni Battista Ferrero |
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73 | (22) |
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5 Weaver Syndrome and LZH2-Related Overgrowth Syndromes |
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95 | (32) |
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6 Simpson-Golabi-Behmel Syndrome |
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127 | (16) |
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143 | (10) |
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153 | (10) |
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9 PTEN-Related Overgrowth Syndromes |
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163 | (24) |
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10 Lateralized Overgrowth: Hemihypertrophy and Hemihyperplasia |
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187 | (12) |
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Giovanni Battista Ferrero |
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199 | (18) |
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12 PIK3CA-Related Overgrowth Spectrum |
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217 | (24) |
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241 | (20) |
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| Index |
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261 | |
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.
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