Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Neurofibromatosis 1-like syndrome is an autosomal dominant disorder caused by mutations of the SPRED1 gene.
Neurofibromatosis
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Familial spinal neurofibromatosis
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Legius syndrome
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SPRED1
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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. |
Brems H et al. (2007) Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. 
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| 2. |
Pasmant E et al. (2009) SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype.
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| 3. |
Spurlock G et al. (2009) SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype.
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| 4. |
Spencer E et al. (2011) Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCR.
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| 5. |
Laycock-van Spyk S et al. (2011) Identification of five novel SPRED1 germline mutations in Legius syndrome.
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| 6. |
Brems H et al. (2012) Review and update of SPRED1 mutations causing Legius syndrome.
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| 7. |
OMIM.ORG article Omim 611431
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| 8. |
Orphanet article Orphanet ID 137605
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| 9. |
Wikipedia article Wikipedia EN (Legius_syndrome)
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