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 | |
Bei diesem Typ der Neurofibromatose sind die Cafe-au-lait-Flecken zusätzlich mit körperlichen Fehlbildungen wie beim Noonan-Syndrom assoziiert. |
Neurofibromatose | ||||
Legius-Syndrom | ||||
Neurofibromatose 1 | ||||
Neurofibromatose-Noonan-Syndrom | ||||
NF1 | ||||
Noonan-Syndrom 6 | ||||
Spinale Form der Neurofibromatose | ||||
Watson-Syndrome | ||||
1. |
Colley A et al. (1996) Neurofibromatosis/Noonan phenotype: a variable feature of type 1 neurofibromatosis. |
2. |
Klopfenstein KJ et al. () Neurofibromatosis-Noonan syndrome and acute lymphoblastic leukemia: a report of two cases. |
3. |
Bahuau M et al. (1998) Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndrome. |
4. |
Bahuau M et al. (1996) Exclusion of allelism of Noonan syndrome and neurofibromatosis-type 1 in a large family with Noonan syndrome-neurofibromatosis association. |
5. |
Jamieson CR et al. (1994) Mapping a gene for Noonan syndrome to the long arm of chromosome 12. |
6. |
Opitz JM et al. (1985) The neurofibromatosis-Noonan syndrome. |
7. |
Abuelo DN et al. (1988) Neurofibromatosis with fully expressed Noonan syndrome. |
8. |
None (1987) Evidence that the "neurofibromatosis-Noonan syndrome" is a variant of von Recklinghausen neurofibromatosis. |
9. |
Quattrin T et al. (1987) Vertical transmission of the neurofibromatosis/Noonan syndrome. |
10. |
Nyström AM et al. (2009) Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1. |
11. |
Thiel C et al. (2009) Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome. |
12. |
Stevenson DA et al. (2006) Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype. |
13. |
De Luca A et al. (2005) NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome. |
14. |
Bertola DR et al. (2005) Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient. |
15. |
Baralle D et al. (2003) Different mutations in the NF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS). |
16. |
Allanson JE et al. (1985) Noonan phenotype associated with neurofibromatosis. |
17. |
OMIM.ORG article Omim 601321 |
18. |
Orphanet article Orphanet ID 638 |