Neurofibromatosis Type 1: Diagnosis, Prevalence and Quality of Life 9781536196269

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Автор: Richard G. Morgan
Название: Neurofibromatosis Type 1: Diagnosis, Prevalence and Quality of Life
ISBN: 9781536196269
Издательство: Nova Science
Классификация:

Дерматология

ISBN-10: 1536196266
Обложка/Формат: Paperback
Страницы: 132
Вес: 0.22 кг.
Дата издания: 21.06.2021
Серия: Medicine
Язык: English
Размер: 153 x 229 x 23
Читательская аудитория: General (us: trade)
Ключевые слова: Dermatology
Подзаголовок: Diagnosis, prevalence and quality of life
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Поставляется из: Англии
Описание: 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.

Neurofibromatosis Type 1: Diagnosis, Prevalence and Quality of Life, Richard G. Morgan