Neurofibromatose-Noonan-Syndrom
Neurofibromatose Typ 1 mit Noonan-Syndrom ist eine autosomal dominante Erkrankung durch NF1-Mutationen ausgelöst. Es ist eine Variante der Neurofibromatose, die zusätzlich zu den Cafe-au-lait-Flecken und den Neurofibromen körperliche Zeichen des Noonan-Syndroms aufweist.
| Cafe-au-lait-Flecke | |
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Bei diesem Typ der Neurofibromatose sind die Cafe-au-lait-Flecken zusätzlich mit körperlichen Fehlbildungen wie beim Noonan-Syndrom assoziiert. |
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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NF1
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Noonan-Syndrom 6
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Spinale Form der Neurofibromatose
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Watson-Syndrome
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Referenzen:
| 1. |
Allanson JE et. al. (1985) Noonan phenotype associated with neurofibromatosis. [^] |
| 2. |
Colley A et. al. (1996) Neurofibromatosis/Noonan phenotype: a variable feature of type 1 neurofibromatosis. [^] |
| 3. |
Baralle D et. al. (2003) Different mutations in the NF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS). [^] |
| 4. |
Bertola DR et. al. (2005) Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient. [^] |
| 5. |
De Luca A et. al. (2005) NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome. [^] |
| 6. |
Stevenson DA et. al. (2006) Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype. [^] |
| 7. |
Thiel C et. al. (2009) Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome. [^] |
| 8. |
Nyström AM et. al. (2009) Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1. [^] |
| 9. |
Quattrin T et. al. (1987) Vertical transmission of the neurofibromatosis/Noonan syndrome. [^] |
| 10. |
None (1987) Evidence that the "neurofibromatosis-Noonan syndrome" is a variant of von Recklinghausen neurofibromatosis. [^] |
| 11. |
Abuelo DN et. al. (1988) Neurofibromatosis with fully expressed Noonan syndrome. [^] |
| 12. |
Opitz JM et. al. (1985) The neurofibromatosis-Noonan syndrome. [^] |
| 13. |
Jamieson CR et. al. (1994) Mapping a gene for Noonan syndrome to the long arm of chromosome 12. [^] |
| 14. |
Bahuau M et. al. (1996) Exclusion of allelism of Noonan syndrome and neurofibromatosis-type 1 in a large family with Noonan syndrome-neurofibromatosis association. [^] |
| 15. |
Bahuau M et. al. (1998) Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndrome. [^] |
| 16. |
Klopfenstein KJ et. al. () Neurofibromatosis-Noonan syndrome and acute lymphoblastic leukemia: a report of two cases. [^] |
