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Legius Syndrome: two novel mutations in the SPRED1 gene
The SPRED1 gene encodes a protein involved in the Ras/MAPK (mitogen-activated protein kinase) signaling pathway. Mutations in SPRED1 have been reported to cause Legius Syndrome, a rare developmental disorder that shares some clinical features with Neurofibromatosis-1. Direct sequencing was used to d...
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| Udgivet i: | Hum Genome Var |
|---|---|
| Main Authors: | , , , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Nature Publishing Group
2015
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4785569/ https://ncbi.nlm.nih.gov/pubmed/27081556 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2015.51 |
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