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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...

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Detalles Bibliográficos
Autores principales:	Xu, Shanshan, Fan, Yanjie, Sun, Yu, Wang, Lili, Gu, Xuefan, Yu, Yongguo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2017
Materias:	Research Article
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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