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Genomic Duplication of PTPN11 is an Uncommon Cause of Noonan Syndrome
Noonan syndrome (NS) is a genetically heterogeneous disorder caused most commonly by activating mutations in PTPN11. We report a patient with hypotonia, developmental delay and clinical features suggestive of NS. High-resolution chromosome analysis was normal, and sequence analyses of PTPN11, SOS1,...
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| Autores principales: | , , , , , , , |
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| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
2009
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2768228/ https://ncbi.nlm.nih.gov/pubmed/19760651 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.32992 |
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