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Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly
Macrodactyly is a discrete congenital anomaly consisting of enlargement of all tissues localized to the terminal portions of a limb, typically within a ‘nerve territory’. The classic terminology for this condition is ‘lipofibromatous hamartoma of nerve’ or Type I macrodactyly. The peripheral nerve,...
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| Hoofdauteurs: | , , , , , , |
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| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Oxford University Press
2013
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3542862/ https://ncbi.nlm.nih.gov/pubmed/23100325 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/dds440 |
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