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 | |
In this type of neurofibromatosis cafe-au-lait spots are also associated with physical deformations typical of Noonan syndrome. |
Neurofibromatosis | ||||
Familial spinal neurofibromatosis | ||||
Legius syndrome | ||||
Neurofibromatosis 1 | ||||
Neurofibromatosis-Noonan syndrome | ||||
NF1 | ||||
Noonan syndrome 6 | ||||
Watson syndrome | ||||
1. |
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12. |
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13. |
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14. |
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17. |
OMIM.ORG article Omim 601321 |
18. |
Orphanet article Orphanet ID 638 |
19. |
Wikipedia article Wikipedia EN (Watson_syndrome) |