Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders

Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders

Abstract 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,...

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Bibliographic Details
Main Authors: Shanshan Xu, Yanjie Fan, Yu Sun, Lili Wang, Xuefan Gu, Yongguo Yu
Format: Article
Language:English
Published: BMC 2017-10-01
Series:BMC Medical Genomics
Subjects:
Noonan syndrome
Whole exome sequencing
PTPN11
RAF1
BRAF
Gene mutation
Online Access:http://link.springer.com/article/10.1186/s12920-017-0298-6

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http://link.springer.com/article/10.1186/s12920-017-0298-6

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