Skeletal Dysplasia, Global Developmental Delay, and Multiple Congenital Anomalies in a 5 year-old boy– Report of the Second Family with B3GAT3 mutation and Expansion of the Phenotype

Lignende værker

• Novel Splicing Mutation in B3GAT3 Associated with Short Stature, GH Deficiency, Hypoglycaemia, Developmental Delay, and Multiple Congenital Anomalies
  af: Bloor, Samuel, et al.
  Udgivet: (2017)
• Novel Splicing Mutation in B3GAT3 Associated with Short Stature, GH Deficiency, Hypoglycaemia, Developmental Delay, and Multiple Congenital Anomalies
  af: Samuel Bloor, et al.
  Udgivet: (2017-01-01)
• EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay
  af: Volpi, Stefano, et al.
  Udgivet: (2017)
• Congenital skeletal dysplasia
  af: Gowri, Vaidyanathan, et al.
  Udgivet: (2009)
• A Newly Recognized Syndrome With Characteristic Facial Features, Skeletal Dysplasia, and Developmental Delay
  af: Baratela, Wagner A.R., et al.
  Udgivet: (2012)