An atypical case of Noonan syndrome with KRAS mutation diagnosed by targeted exome sequencing

類似資料

• The first Korean case with Floating-Harbor syndrome with a novel SRCAP mutation diagnosed by targeted exome sequencing
  著者:: Choi, Eun Mi, 等
  出版事項: (2018)
• Nonspecific phenotype of Noonan syndrome diagnosed by whole exome sequencing
  著者:: Coromilas, Alexandra, 等
  出版事項: (2015)
• Identification of a Heterozygous SPG11 Mutation by Clinical Exome Sequencing in a Patient With Hereditary Spastic Paraplegia: A Case Report
  著者:: Oh, Ja-Young, 等
  出版事項: (2016)
• Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders
  著者:: Xu, Shanshan, 等
  出版事項: (2017)
• A novel de novo mosaic mutation in PHEX in a Korean patient with hypophosphatemic rickets
  著者:: Yang, Misun, 等
  出版事項: (2018)