An epidermal nevus syndrome with cerebral involvement caused by a mosaic FGFR3 mutation
Article
García‐Vargas, Alejandro, Hafner, Christian, Pérez‐Rodríguez, Adriana G., Rodríguez‐Rojas, L. Ximena, González‐Esqueda, Pedro, Stoehr, Robert, Hernández‐Torres, Mercedes and Happle, Rudolf (2008) An epidermal nevus syndrome with cerebral involvement caused by a mosaic FGFR3 mutation. American Journal of Medical Genetics Part A 146A (17), pp. 2275-2279.Alternative links to fulltext
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Details
| Item type | Article | ||||
| Journal or Publication Title | American Journal of Medical Genetics Part A | ||||
| Publisher | WILEY | ||||
| Place of Publication | HOBOKEN | ||||
| Volume | 146A | ||||
| Number of Issue or Book Chapter | 17 | ||||
| Page Range | pp. 2275-2279 | ||||
| Date | 2008 | ||||
| Date of publication | 19 Dec 2024 13:14 | ||||
| Institutions | Medicine > Lehrstuhl für Dermatologie und Venerologie | ||||
| Identification Number |
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| Keywords | GROWTH-FACTOR RECEPTOR-3; TEMPORAL-LOBE DYSGENESIS; THANATOPHORIC DYSPLASIA; ACANTHOSIS NIGRICANS; ACHONDROPLASIA; PROLIFERATION; ACTIVATION; DISORDERS; DIAGNOSIS; DISTINCT; epidermal nevus syndromes; systematized non-organoid; non-epidermolytic epidermal nevus; CNS defects; epileptic seizures; mental retardation; FGFR3 mutation | ||||
| Dewey Decimal Classification | 600 Technology > 610 Medical sciences Medicine | ||||
| Status | Published | ||||
| Refereed | Yes, this version has been refereed | ||||
| Created at the University of Regensburg | Yes | ||||
| Item ID | 67845 |
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