Neurofibromatosis Type 1 : Molecular and Cellular Biology

Table of Contents: “…From the Contents: von Recklinghausen disease -- Clinical diagnosis and atypical cases -- Management and treatment of NF1: complex UK NF1 clinics -- Mortality in NF1 -- The cognitive profile of NF1 children, therapeutic implications -- Clinical expression of NF1 in monozygotic twins -- Whole body MRI studies in NF1 patients -- Quality of Life in NF1 -- NF1 gene: promoter, 3’UTR and complex features -- Germline mutational spectrum of  NF1 and Genotype-Phenotype Correlations -- Splicing mechanisms and mutations in the NF1 gene -- NF1 Germline and somatic mosaicism -- Deep intronic NF1 mutations and possible therapeutic interventions -- NF1 microdeletions and mutational mechanisms -- NF1 somatic mutational spectrum -- Social Stigma in NF1 -- Personalized Medicine in NF1 -- Future Directions - Where do we go from here.…”
Connect to this title online