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    Mackenroth, L. et al. (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. 170 (4), pp. 1080-1085. [Online]. 
  
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