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Molecular heterogeneity of the cerebriform connective tissue nevus in mosaic overgrowth syndromes
The clinical diagnostic criteria for Proteus syndrome were defined before the discovery of the AKT1 c.49G>A; p.(Glu17Lys) causal variant and used a combination of general and specific phenotypic attributes that could be combined to make a clinical diagnosis. The most heavily weighted specific cri...
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| Publicado no: | Cold Spring Harb Mol Case Stud |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Cold Spring Harbor Laboratory Press
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6672027/ https://ncbi.nlm.nih.gov/pubmed/31371346 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a004036 |
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