Novel Splicing Mutation in B3GAT3 Associated with Short Stature, GH Deficiency, Hypoglycaemia, Developmental Delay, and Multiple Congenital Anomalies

Lignende værker

• Fluoxetine-Induced Hypoglycaemia in a Patient with Congenital Hyperinsulinism on Lanreotide Therapy
  af: Giri, Dinesh, et al.
  Udgivet: (2016)
• Congenital hyperinsulinism and Poland syndrome in association with 10p13–14 duplication
  af: Giri, Dinesh, et al.
  Udgivet: (2017)
• Silent Crooke’s cell corticotroph adenoma of the pituitary gland presenting as delayed puberty
  af: Giri, Dinesh, et al.
  Udgivet: (2017)
• 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
  af: von Oettingen, Julia E., et al.
  Udgivet: (2014)
• Homozygous noncanonical splice variant in LSM1 in two siblings with multiple congenital anomalies and global developmental delay
  af: Okur, Volkan, et al.
  Udgivet: (2019)