title: [The Recklinghausen model: innumerable phenotypes and scarce genotypes].
abstract: Since several decades, clinical reports about neurofibromatosis are overwhelming general practitioners, neurologists and other specialists. Since some years cellular biology (specially experimental studies on the neural crest) and molecular genetics light up somewhat the contrast between innumerable phenotypes and the rare punctual mutations which are at the source of the disease. The author reviews the different theories which are attempting to explain the process of malignant transformation in these kinds of diseases (role of eventual oncogenes and recent experiment types of Hinrichs in transgenic mice).
mesh_terms: D002471:Cell Transformation, Neoplastic; D005838:Genotype; D006801:Humans; D009456:Neurofibromatosis 1 / Q000235:genetics*; D010641:Phenotype
vernacular_title: Le modèle Recklinghausen: phénotypes innombrables et génotypes clairsemés.