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024	7		_a10.1007/978-3-031-62945-7 _2doi
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245	1	4	_aThe RASopathies _h[electronic resource] : _bGenetic Syndromes of the RAS/MAPK Pathway / _cedited by Katherine A. Rauen.
250			_a1st ed. 2024.
264		1	_aCham : _bSpringer Nature Switzerland : _bImprint: Springer, _c2024.
300			_aXXII, 914 p. 96 illus., 92 illus. in color. _bonline resource.
336			_atext _btxt _2rdacontent
337			_acomputer _bc _2rdamedia
338			_aonline resource _bcr _2rdacarrier
347			_atext file _bPDF _2rda
505	0		_aPreface -- What is a RASopathy -- Neurofibromatosis Type 1 -- Legius Syndrome -- Noonan Syndrome -- Noonan Syndrome with Multiple Lentigines -- Costello Syndrome -- Cardio-facio-cutaneous Syndrome -- Capillary Malformation – Arteriovenous Malformation Syndrome -- SYNGAP1 – The Gene and Syndrome -- Central Conducting Lymphatic Anomalies -- Defining Pathogenic Variants in RASopathies -- Molecular Genetics of Noonan Syndrome and other RASopathies -- Comprehensive Care for Patients with RASopathies -- Precision Medicine in RASopathies: Tailored Disease Management through Enhanced Approaches, Disease Delineation, and Pathway-Specific Therapies -- Genetic Counseling and the RASopathies -- The Importance of Advocacy in the RASopathies -- The RAS Signaling Network and Cancer -- The RAS-regulated RAF-MEK1/2-ERK1/2 Protein Kinase Pathway – the path most travelled in RASopathies -- The non-canonical RAS/MAPK pathway and the RASopathies -- Understanding the Ras in RASopathies -- RAS Family Interactions: The SHOC2-MRAS-PP1 complex in Noonan syndrome -- RASopathy Genes: Germline Risk and Somatic Cancers -- Cancer in Neurofibromatosis type 1 -- Prenatal Manifestations of the RASopathies -- Cardiovascular Disease in the RASopathies -- Cognitive Development and Learning in RASopathies -- Behavioral Profile in RASopathies -- Autism and Social Behavior in RASopathies -- Epilepsy in RASopathies -- Speech-Language Pathology in the RASopathies -- Ophthalmic Manifestations in RASopathies -- Dermatological Associations in the RASopathies -- Mosaic RASopathies -- Craniofacial and Dental Development in the RASopathies -- Skeletal Muscle Development in the RASopathies -- Orthopedic Issues of the RASopathies -- Drosophila models of RASopathies -- Neurofibromatosis Type 1 Mouse Models -- Neurofibromatosis type I: Preclinical Modeling -- Modeling the non-NF1 RASopathies -- Clinical Studies and Small Molecule Inhibitors for RASopathy Treatment -- Index.
520			_aThis 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.
650		0	_aGenetics. _968863
650		0	_aMedical genetics. _964976
650		0	_aNeurosciences. _968384
650		0	_aNeurology . _966816
650		0	_aPediatrics. _964087
650	1	4	_aGenetics and Genomics. _968866
650	2	4	_aClinical Genetics. _973305
650	2	4	_aNeuroscience. _968386
650	2	4	_aNeurology. _966816
650	2	4	_aPediatrics. _964087
700	1		_aRauen, Katherine A. _eeditor. _4edt _4http://id.loc.gov/vocabulary/relators/edt _988262
710	2		_aSpringerLink (Online service)
773	0		_tSpringer Nature eBook
776	0	8	_iPrinted edition: _z9783031629440
776	0	8	_iPrinted edition: _z9783031629464
776	0	8	_iPrinted edition: _z9783031629471
856	4	0	_uhttps://doi.org/10.1007/978-3-031-62945-7
912			_aZDB-2-SBL
912			_aZDB-2-SXB
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