The First Mutation Identified in a Chinese Acrodysostosis Patient Confirms a p.G289E Variation of PRKAR1A Causes Acrodysostosis

Lignende værker

• Novel Mutations in FKBP10 and PLOD2 Cause Rare Bruck Syndrome in Chinese Patients
  af: Zhou, Peiran, et al.
  Udgivet: (2014)
• Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia
  af: Michot, Caroline, et al.
  Udgivet: (2018)
• The first case report of Kyphoscoliotic Ehlers-Danlos syndrome of chinese origin with a novel PLOD1 gene mutation
  af: Ni, Xiaolin, et al.
  Udgivet: (2020)
• Four novel mutations in the ALPL gene in Chinese patients with odonto, childhood, and adult hypophosphatasia
  af: Xu, Lijun, et al.
  Udgivet: (2018)
• Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets
  af: Pang, Qianqian, et al.
  Udgivet: (2016)