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Neuro-kardio-fazio-kutane Syndrome |
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| Authors: | Prof Dr V-F Mautner R Nguyen A Bernhard Y von Kodolitsch M Zenker K Kutsche |
| Institution: | 1. Bereich Phakomatosen, Klinik und Poliklinik für Mund-, Kiefer- und Gesichtschirurgie, Universit?tsklinikum Hamburg-Eppendorf, Martinistra?e 52, 20246, Hamburg, Deutschland 2. Universit?res Herzzentrum Hamburg, Universit?tsklinikum Hamburg-Eppendorf, Hamburg, Deutschland 3. Humangenetisches Institut, Universit?tsklinikum Erlangen, Universit?t Erlangen-Nürnberg, Erlangen, Deutschland 4. Institut für Humangenetik, Otto-von-Guericke-Universit?t Magdeburg, Magdeburg, Deutschland 5. Institut für Humangenetik, Universit?tsklinikum Hamburg-Eppendorf, Hamburg, Deutschland |
| Abstract: | Recently, neuro-cardio-facio-cutaneous (NCFC) syndromes were defined as a group of hereditary diseases with phenotypical overlap based on a similar pathogenetic mechanism. These syndromes are associated with increased signal transduction down the RAS-MAPK (RAS: rat sarcoma, MAPK: mitogen-activated protein kinase) pathway. Noonan, LEOPARD, cardio-facio-cutaneous, and Costello syndrome as well as neurofibromatosis type 1 and Legius syndrome belong to the NCFC diseases. Interdisciplinary health management is essential to determine and establish adequate medical diagnostics and treatment and to provide psychosocial support for affected patients and their families. |
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