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

Autor: Bolund, Anneli C.S., Langdahl, Bente, Laurberg, Trine B., Hellfritzsch, Michel B., Gjørup, Hans, Møller-Madsen, Bjarne, Nielsen, Trine Ø., Farholt, Stense, Gregersen, Pernille A.
Zdroj: In European Journal of Medical Genetics December 2021 64(12)
Databáze: ScienceDirect