Legius-Syndrom
Das Neurofibromatose-ähnliches Syndrom ist eine autosomal dominante Erkrankung, die durch Mutationen im SPRED1-Gen hervorgerufen wird.
Gliederung
Neurofibromatose
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Legius-Syndrom
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SPRED1
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Neurofibromatose 1
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Neurofibromatose-Noonan-Syndrom
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Noonan-Syndrom 6
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Spinale Form der Neurofibromatose
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Watson-Syndrome
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Referenzen:
| 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 [^] |
