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SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions
We report five cases of multiple giant cell lesions in patients with typical Noonan syndrome. Such association has frequently been referred to as Noonan-like/multiple giant cell (NL/MGCL) syndrome before the molecular definition of Noonan syndrome. Two patients show mutations in PTPN11 (p.Tyr62Asp a...
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| Main Authors: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2009
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2986637/ https://ncbi.nlm.nih.gov/pubmed/19352411 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2009.44 |
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