Article
Analysis of mitochondrial DNA in discordant monozygotic twins with neurofibromatosis type 1.
Twin research and human genetics : the official journal of the International Society for Twin Studies - 1 Jun 2007
Detjen Anne Katrin, Tinschert Sigrid, Kaufmann Dieter, Algermissen Bernd, Nürnberg Peter, Schuelke Markus
Abstract excerpt
Neurofibromatosis type 1 (NF1) is the most frequent neurocutaneous disorder with autosomal dominant inheritance. Phenotype variability is high ranging from merely several café-au-lait spots to malignant peripheral nerve sheath tumors or severe disfigurement through plexiform neurofibromas. Identification of genetic factors that modify the NF1 phenotype would contribute to the understanding of NF1 pathophysiology...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.