Rare splicing mutation in COL1A1 gene identified by whole exomes sequencing in a patient with osteogenesis imperfecta type I followed by prenatal diagnosis: A case report and review of the literature

This publication has 23 references indexed in Scilit:

• Genetic causes and mechanisms of Osteogenesis Imperfecta
  Bone, 2017
• Osteogenesis imperfecta
  The Lancet, 2016
• An overlapping phenotype of Osteogenesis imperfecta and Ehlers–Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing
  American Journal of Medical Genetics Part A, 2016
• Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
  Genetics in Medicine, 2015
• What is new in genetics and osteogenesis imperfecta classification?
  Jornal de Pediatria, 2014
• Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment
  American Journal of Medical Genetics Part A, 2014
• Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans
  Human Mutation, 2007
• Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing
  Human Mutation, 2006
• Osteogenesis Imperfecta: Prospects for Molecular Therapeutics
  Molecular Genetics and Metabolism, 2000
• Human type III collagen gene expression is coordinately modulated with the type I collagen genes during fibroblast growth
  Biochemistry, 1986