Detecting 22q11.2 deletion in Chinese children with conotruncal heart defects and single nucleotide polymorphisms in the haploid TBX1 locus

Ítems similars

• Novel TBX1 loss-of-function mutation causes isolated conotruncal heart defects in Chinese patients without 22q11.2 deletion
  per: Xu, Yue-Juan, et al.
  Publicat: (2014)
• Investigation of TBX1 gene deletion in Iranian children with 22q11.2 deletion syndrome: correlation with conotruncal heart defects
  per: Ganji, Hamid, et al.
  Publicat: (2013)
• Single nucleotide polymorphism discovery in TBX1 in individuals with and without 22q11.2 deletion syndrome
  per: Heike, Carrie L., et al.
  Publicat: (2010)
• A loss-of-function mutation p.T52S in RIPPLY3 is a potential predisposing genetic risk factor for Chinese Han conotruncal heart defect patients without the 22q11.2 deletion/duplication
  per: Hong, Nanchao, et al.
  Publicat: (2018)
• Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome
  per: Guo, Tingwei, et al.
  Publicat: (2015)