Ulteriori informazioni
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.
Sommario
- 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
Info autore
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.
Riassunto
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.
Testo aggiuntivo
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.
