Das Neurofibromatose-ähnliches Syndrom ist eine autosomal dominante Erkrankung, die durch Mutationen im SPRED1-Gen hervorgerufen wird.
Neurofibromatose | ||||
Legius-Syndrom | ||||
SPRED1 | ||||
Neurofibromatose 1 | ||||
Neurofibromatose-Noonan-Syndrom | ||||
Noonan-Syndrom 6 | ||||
Spinale Form der Neurofibromatose | ||||
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 |