Heterozygous truncating mutation in the human homeobox gene GSH2 has no discernable phenotypic effect

Lignende værker

• Heterozygous Orthodenticle Homeobox 2 Mutations Are Associated with Variable Pituitary Phenotype
  af: Dateki, Sumito, et al.
  Udgivet: (2010)
• Prevalence of mutations in the short stature homeobox containing gene (SHOX) in Madelung deformity of childhood
  af: Flanagan, S, et al.
  Udgivet: (2002)
• Heterozygous GJA1 variants with ocular phenotype: Missense in domain but truncation out of domain
  af: Li, Xueqing, et al.
  Udgivet: (2021)
• Acrofacial dysostosis in a patient with the TSC2-PKD1 contiguous gene syndrome
  af: Dauwerse, J, et al.
  Udgivet: (2002)
• Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300
  af: Bartholdi, Deborah, et al.
  Udgivet: (2007)