Noonan-Syndrom 6
Das Noonan-Syndrom 6 ist eine autosomal rezessive Erkrankung, die durch Mutationen des NRAS-Gen ausgelöst wird.
Gliederung
Neurofibromatose
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Legius-Syndrom
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Neurofibromatose 1
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Neurofibromatose-Noonan-Syndrom
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Noonan-Syndrom 6
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TRHR
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Spinale Form der Neurofibromatose
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Watson-Syndrome
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Referenzen:
| 1. |
De Filippi P et al. (2009) Germ-line mutation of the NRAS gene may be responsible for the development of juvenile myelomonocytic leukaemia. [^] |
| 2. |
Cirstea IC et al. (2010) A restricted spectrum of NRAS mutations causes Noonan syndrome. [^] |
| 3. |
OMIM.ORG article Omim 613224 [^] |
| 4. |
Orphanet article Orphanet ID 648 [^] |
Update: 29. April 2019
