Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Spinal form of neurofibromatosis is a varient of neurofibromatosis. It also is an autosomal dominant disorder caused by NF1 mutations. By contrast the clinical picture is dominated by spinal neurofibromas.
| Café au lait spots | |
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Typically neurofibromatosis is associated with cafe-au-lait spots. This however is not always true with the spinal form. |
Neurofibromatosis
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Familial spinal neurofibromatosis
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NF1
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Legius syndrome
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Neurofibromatosis 1
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Neurofibromatosis-Noonan syndrome
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Noonan syndrome 6
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Watson syndrome
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| 1. |
Pulst SM et al. (1991) Familial spinal neurofibromatosis: clinical and DNA linkage analysis. 
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| 2. |
Poyhonen M et al. (1997) Hereditary spinal neurofibromatosis: a rare form of NF1?
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| 3. |
Ars E et al. (1998) A clinical variant of neurofibromatosis type 1: familial spinal neurofibromatosis with a frameshift mutation in the NF1 gene.
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| 4. |
Kaufmann D et al. (2001) Spinal neurofibromatosis without café-au-lait macules in two families with null mutations of the NF1 gene.
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| 5. |
Messiaen L et al. (2003) Independent NF1 mutations in two large families with spinal neurofibromatosis.
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| 6. |
Burkitt Wright EM et al. (2013) Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis.
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| 7. |
OMIM.ORG article Omim 162210
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