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Danish Paediatric Orthopaedic Research

B3GAT3-related linkeropathy and an in-frame homozygous deletion in an adult patient

Bolund ACS, Langdahl B, Laurberg TB, Hellfritzsch M, Gjørup H, Møller-Madsen B, Nielsen TØ, Farholt S, Gregersen PA: B3GAT3-related linkeropathy and an in-frame homozygous deletion in an adult patient.
European Journal of Medical Genetics, Volume 64, Issue 12, December 2021. Published.

https://www.sciencedirect.com/science/article/pii/S1769721221002081?dgcid=author