Barbosa, M., Sousa, A., Medeira, A., Lourenço, T., et al. (2011). Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population. Clinical Genetics, 80(6), 550 - 557.

Perdu, B., De Freitas, F., Frints, S. G. M., Schouten, M., et al. (2010). Osteopathia striata with cranial sclerosis owing to WTX gene defect. Journal of Bone and Mineral Research, 25(1), 82 - 90.