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Waterham, H. R., Koster, J., Mooyer, P., van Noort, G., Kelley, R. I., Wilcox, W. R., Wanders, R. J. A., Hennekam, R. C. M., & Oosterwijk, J. C. (2003). Autosomal recessive HEM/greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol Delta(14)-reductase deficiency due to mutations in the lamin B receptor gene. American Journal of Human Genetics, 72, 1013-1017. https://doi.org/10.1086/373938
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