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Loss-of-Function Mutations in PTPN11 Cause Metachondromatosis, but Not Ollier Disease or Maffucci Syndrome
Metachondromatosis (MC) is a rare, autosomal dominant, incompletely penetrant combined exostosis and enchondromatosis tumor syndrome. MC is clinically distinct from other multiple exostosis or multiple enchondromatosis syndromes and is unlinked to EXT1 and EXT2, the genes responsible for autosomal d...
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| Autors principals: | , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Public Library of Science
2011
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| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3077396/ https://ncbi.nlm.nih.gov/pubmed/21533187 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1002050 |
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