Two novel compound heterozygous BMP1 mutations in a patient with osteogenesis imperfecta: a case report

類似資料

• The most 5′ truncating homozygous mutation of WNT1 in siblings with osteogenesis imperfecta with a variable degree of brain anomalies: a case report
  著者:: Kuptanon, Chulaluck, 等
  出版事項: (2018)
• Short stature, platyspondyly, hip dysplasia, and retinal detachment: an atypical type II collagenopathy caused by a novel mutation in the C-propeptide region of COL2A1: a case report
  著者:: Sangsin, Apiruk, 等
  出版事項: (2016)
• A novel de novo COL1A1 mutation in a Thai boy with osteogenesis imperfecta born to consanguineous parents
  著者:: Tongkobpetch, Siraprapa, 等
  出版事項: (2017)
• Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand
  著者:: Chaiyasap, Pongsathorn, 等
  出版事項: (2017)
• A patient with combined pituitary hormone deficiency and osteogenesis imperfecta associated with mutations in LHX4 and COL1A2
  著者:: Nalinee Hemwong, 等
  出版事項: (2020-01-01)