Neurofibromatosis Type 1

Diagnosis, Prevalence and Quality of Life

Buch | Softcover

132 Seiten

2021
Nova Science Publishers Inc (Verlag)
978-1-5361-9626-9 (ISBN)

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This monograph includes five chapters about neurofibromatosis type 1 (NF1), a condition characterised by changes in skin colouring and the growth of tumours along nerves in the skin, brain, and other parts of the body. Chapter One concerns the evolving molecular biology, targeted therapeutics, and neurocognitive deficits in neurofibromatosis type one. Chapter Two focuses on gastrointestinal stromal tumours and reviews the clinicopathologic features of these tumours and discusses differential diagnostic considerations. Chapter Three explores juvenile myelomonocytic leukaemia, a rare haematological malignancy of the paediatric population, and its association with NF1 and distinguishing features in this context. Chapter Four reviews molecular approaches for the diagnosis of NF1, from single-gene testing to next-generation sequencing of gene panels, with a focus on the issues of sensitivity and variant interpretations. Finally, Chapter Five focuses attention on focal cortical dysplasia that has been identified in the population of NF1 patients that have had coexistent hippocampal sclerosis.

Preface; Evolving Molecular Biology, Targeted Therapeutics and Neurocognitive Deficits in Neurofibromatosis 1; Gastrointestinal Stromal Tumors Associated with Neurofibromatosis Type 1; Juvenile Myelomonocytic Leukemia in the Context of Neurofibromatosis Type 1; Emerging Molecular Approaches to the Early Diagnosis of Neurofibromatosis Type 1; Focal Cortical Dysplasia in Neurofibromatosis Type 1; Index.

Erscheinungsdatum	21.07.2021
Sprache	englisch
Gewicht	223 g
Themenwelt	Medizin / Pharmazie ► Medizinische Fachgebiete ► Dermatologie
ISBN-10	1-5361-9626-6 / 1536196266
ISBN-13	978-1-5361-9626-9 / 9781536196269
Zustand	Neuware