1. Ritelli, Marco, Cinquina, Valeria, Giacopuzzi, Edoardo, Chiarelli, Nicola, Colombi, Marina. 2019. Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes. In Genes, 10, . doi:10.3390/genes10090631. https://pubmed.ncbi.nlm.nih.gov/31438591/
2. Colman, Marlies, Van Damme, Tim, Steichen-Gersdorf, Elisabeth, Symoens, Sofie, Malfait, Fransiska. 2019. The clinical and mutational spectrum of B3GAT3 linkeropathy: two case reports and literature review. In Orphanet journal of rare diseases, 14, 138. doi:10.1186/s13023-019-1110-9. https://pubmed.ncbi.nlm.nih.gov/31196143/
3. Yauy, Kevin, Tran Mau-Them, Frederic, Willems, Marjolaine, Barat-Houari, Mouna, Genevieve, David. 2017. B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation. In Genetics in medicine : official journal of the American College of Medical Genetics, 20, 269-274. doi:10.1038/gim.2017.109. https://pubmed.ncbi.nlm.nih.gov/28771243/
4. Byrne, Alicia B, Mizumoto, Shuji, Arts, Peer, Savarirayan, Ravi, Scott, Hamish S. 2020. Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis. In Journal of medical genetics, 57, 454-460. doi:10.1136/jmedgenet-2019-106700. https://pubmed.ncbi.nlm.nih.gov/31988067/
5. Zhang, Yan-Li, Ding, Chao, Sun, Lei. 2019. High Expression B3GAT3 Is Related with Poor Prognosis of Liver Cancer. In Open medicine (Warsaw, Poland), 14, 251-258. doi:10.1515/med-2019-0020. https://pubmed.ncbi.nlm.nih.gov/30847403/
6. Taylan, F, Mäkitie, O. 2016. Abnormal Proteoglycan Synthesis Due to Gene Defects Causes Skeletal Diseases with Overlapping Phenotypes. In Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme, 48, 745-754. doi:. https://pubmed.ncbi.nlm.nih.gov/27871115/