Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Neurofibromatosis type 1 with Noonan syndrome is an autosomal dominant disorder caused by mutations of the NF1 gene. It is a variant of neurofibromatosis 1 which in addition to cafe-au-lait spots and and multiple neurofibromas shows physical signs of Noonan syndrome.
| Café au lait spots | |
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In this type of neurofibromatosis cafe-au-lait spots are also associated with physical deformations typical of Noonan syndrome. |
Neurofibromatosis
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Familial spinal neurofibromatosis
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Legius syndrome
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Neurofibromatosis 1
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Neurofibromatosis-Noonan syndrome
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NF1
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Noonan syndrome 6
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Watson syndrome
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| 1. |
Colley A et al. (1996) Neurofibromatosis/Noonan phenotype: a variable feature of type 1 neurofibromatosis. 
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| 2. |
Klopfenstein KJ et al. () Neurofibromatosis-Noonan syndrome and acute lymphoblastic leukemia: a report of two cases.
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| 3. |
Bahuau M et al. (1998) Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndrome.
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| 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.
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| 5. |
Jamieson CR et al. (1994) Mapping a gene for Noonan syndrome to the long arm of chromosome 12.
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| 6. |
Opitz JM et al. (1985) The neurofibromatosis-Noonan syndrome.
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| 7. |
Abuelo DN et al. (1988) Neurofibromatosis with fully expressed Noonan syndrome.
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| 8. |
None (1987) Evidence that the "neurofibromatosis-Noonan syndrome" is a variant of von Recklinghausen neurofibromatosis.
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| 9. |
Quattrin T et al. (1987) Vertical transmission of the neurofibromatosis/Noonan syndrome.
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| 10. |
Nyström AM et al. (2009) Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1.
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| 11. |
Thiel C et al. (2009) Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome.
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| 12. |
Stevenson DA et al. (2006) Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype.
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| 13. |
De Luca A et al. (2005) NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.
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| 14. |
Bertola DR et al. (2005) Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient.
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| 15. |
Baralle D et al. (2003) Different mutations in the NF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS).
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| 16. |
Allanson JE et al. (1985) Noonan phenotype associated with neurofibromatosis.
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| 17. |
OMIM.ORG article Omim 601321
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| 18. |
Orphanet article Orphanet ID 638
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| 19. |
Wikipedia article Wikipedia EN (Watson_syndrome)
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