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Two novel distinct COL1A2 mutations highlight the complexity of genotype–phenotype correlations in osteogenesis imperfecta and related connective tissue disorders
Reuter, Miriam S., Schwabe, Georg C., Ehlers, Christian, Marschall, Christoph, Reis, André, Thiel, Christian, Graul-Neumann, LuitgardVolume:
56
Language:
english
Journal:
European Journal of Medical Genetics
DOI:
10.1016/j.ejmg.2013.10.002
Date:
December, 2013
File:
PDF, 1.40 MB
english, 2013