Novel phenotypes of NF1 patients from unrelated Chinese families with tibial pseudarthrosis and anemia

Lignende værker

• Double Inactivation of NF1 in Tibial Pseudarthrosis
  af: Stevenson, David A., et al.
  Udgivet: (2006)
• Whole Exome Sequencing Identified a Novel Heterozygous Mutation in HMBS Gene in a Chinese Patient With Acute Intermittent Porphyria With Rare Type of Mild Anemia
  af: Zheng, Yongjiang, et al.
  Udgivet: (2018)
• A novel pathogenic splice acceptor site germline mutation in intron 14 of the APC gene in a Chinese family with familial adenomatous polyposis
  af: Wang, Dan, et al.
  Udgivet: (2017)
• Clinical characteristics and spectrum of NF1 mutations in 12 unrelated Chinese families with neurofibromatosis type 1
  af: Mao, Bin, et al.
  Udgivet: (2018)
• A novel pathogenic single nucleotide germline deletion in APC gene in a four generation Chinese family with familial adenomatous polyposis
  af: Zhang, Zhao, et al.
  Udgivet: (2017)