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