Neurofibromatosis: Phenotype, Natural History, and PathogenesisJan Marshall Friedman "Now in its third edition, Neurofibromatosis has been extensively rewritten by a group of leading neurofibromatosis (NF) researchers. It summarizes the current state of knowledge and details significant advances in the basic science and clinical care of patients with NF1 and NF2. Areas of particular emphasis include aspects of natural history, variability, pathology, molecular biology, and cellular biology that give a deeper understanding of the mechanisms responsible for these diseases. The book is a definitive, comprehensive review of the history, heterogeneity, pathogenesis, genetics, and management of NF1 and NF2"--Publisher description. |
Contents
Evaluation and Management J M Friedman | 87 |
Clinical Genetics J M Friedman | 110 |
Neurofibromas and Malignant Tumors of the Peripheral | 142 |
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Common terms and phrases
abnormalities affected allele analysis artery bilateral brain bromatosis café-au-lait spots Cancer carcinoid cells child children with NF1 chromosome clinical cognitive deficits cutaneous deletions Dermatol diagnosis disorder dysplasia evaluation exon features of NF1 Figure function growth Hum Genet Huson Huson SM hypertension individuals with NF1 intracranial learning disability lesions leukemia Lisch nodules Listernick MacCollin macrocephaly malignant matosis meningiomas molecular mosaicism multiple mutation myeloid natural history nerve sheath tumors neurofi neurofibromatosis type Neurol neurologic NF1 gene NF1 locus NF1 mutation Noonan syndrome occur optic gliomas optic nerve optic pathway gliomas pathogenesis Pathol pathologic patients with neurofibromatosis patients with NF1 Pediatr peripheral nerve sheath phenotype pheochromocytoma plexiform neurofibromas population protein pseudarthrosis Recklinghausen neurofibromatosis reported Riccardi VM Samuelsson schwannomas schwannomatosis scoliosis severity grade skin somatic spinal sporadic stenosis studies T₂ tion tissues type 1 NF1 Upadhyaya vestibular schwannoma Viskochil Watson syndrome