TY  - BOOK
AU  - Morgan,Richard G.
TI  - Neurofibromatosis type 1: diagnosis, prevalence and quality of life 
T2  - Dermatology - laboratory and clinical research
SN  - 9781536196757
AV  - RC280 .N487 2021
KW  - Neurofibromatosis
KW  - Neurofibromatosis in children
KW  - Electronic Books
N1  - 2; 2; b
N2  - "This monograph includes five chapters about neurofibromatosis type 1 (NF1), a condition characterized by changes in skin coloring and the growth of tumors 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 tumors and reviews the clinicopathologic features of these tumors and discusses differential diagnostic considerations. Chapter Three explores juvenile myelomonocytic leukemia, a rare hematological malignancy of the pediatric 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"--
UR  - httpss://search.ebscohost.com/login.aspx?direct=true&scope=site&db=nlebk&db=nlabk&AN=2923590&site=eds-live&custid=s3260518
ER  -