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Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders
BACKGROUND: Noonan syndrome (NS) and Noonan syndrome with multiple lentigines (NSML) are autosomal dominant developmental disorders. NS and NSML are caused by abnormalities in genes that encode proteins related to the RAS-MAPK pathway, including PTPN11, RAF1, BRAF, and MAP2K. In this study, we diagn...
Autores principales: | Xu, Shanshan, Fan, Yanjie, Sun, Yu, Wang, Lili, Gu, Xuefan, Yu, Yongguo |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5663114/ https://www.ncbi.nlm.nih.gov/pubmed/29084544 http://dx.doi.org/10.1186/s12920-017-0298-6 |
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