Description du livre
This book presents comprehensive coverage of the RASopathies, one of the largest known recognizable patterns of malformation syndromes, affecting approximately 1 in 1,000 people. These syndromes include neurofibromatosis type 1, Noonan syndrome, Noonan syndrome with multiple lentigines, Costello syndrome, cardio-facio-cutaneous syndrome, Legius syndrome, capillary malformation-arteriovenous malformation syndrome, SYNGAP1 syndrome and central conducting lymphatic anomalies. Noted physician and authority Katherine Rauen and an assembly of the top international experts present detailed discussions of both the science and clinical implications of these fascinating disorders. The major topics covered in this book include the syndromes and genes, the RAS pathway, phenotypic features, animal modeling and treatments. The book will appeal to a wide audience, including clinicians and basic scientists alike such as medical geneticists, genetics counsellors, oncologists, neurologists, cardiologists, dermatologists, behavioralists, orthopedists, ophthalmologists, neuroscientists, RAS biologists, and signal transductionists. This book is also intended for advocate leaders, trainees, and families with RASopathies.