Hafner, Christian and Groesser, Leopold (2013) Mosaic RASopathies. CELL CYCLE, 12 (1). pp. 43-50. ISSN 1538-4101, 1551-4005
Full text not available from this repository. (Request a copy)Abstract
RASopathies are a group of developmental syndromes with partly overlapping clinical symptoms that are caused by germline mutations of genes within the Ras/MAPK signaling pathway. Mutations affecting this pathway can also occur in a mosaic state, resulting in congenital syndromes often distinct from those generated by the corresponding germline mutations. For syndromes caused by mosaic mutations of the Ras/MAPK signaling pathway, the term "mosaic RASopathies" has been proposed. In the following article, genetic and phenotypic aspects of mosaic RASopathies will be discussed.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | GROWTH-FACTOR RECEPTOR-3; EPIDERMAL NEVUS SYNDROMES; SQUAMOUS-CELL CARCINOMAS; FEUERSTEIN-MIMS-SYNDROME; SOMATIC NF1 MUTATION; NEUROFIBROMATOSIS TYPE-1; COSTELLO-SYNDROME; FGFR3 MUTATIONS; SEGMENTAL NEUROFIBROMATOSIS; SEBORRHEIC KERATOSES; RAS; HRAS; KRAS; NRAS; mutation; mosaic RASopathy; epidermal nevus; mosaicism; sebaceous nevus; epidermal nevus syndrome |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Dermatologie und Venerologie |
| Depositing User: | Petra Gürster |
| Date Deposited: | 27 May 2020 07:59 |
| Last Modified: | 27 May 2020 07:59 |
| URI: | https://pred.uni-regensburg.de/id/eprint/17506 |
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