Cite

    Mackenroth, L., Fischer‐Zirnsak, B., Egerer, J., Hecht, J., Kallinich, T., Stenzel, W., Spors, B., von Moers, A., Mundlos, S., Kornak, U., Gerhold, K., & Horn, D. (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), 1080–1085. http://access.bl.uk/ark:/81055/vdc_100031198014.0x00004a