B3GALT6-linkeropathy: Three illustrative patients spanning the disease spectrum

We describe the clinico-radiological features of these patients to highlight the spectrum of disease associated with the B3GALT6-linkeropathy.PMID:37657630 | DOI:10.1016/j.ejmg.2023.104829

Source: European Journal of Medical Genetics - September 1, 2023 Category: Genetics & Stem Cells Authors: Kimberly Christine Coetzer Jost Dieckerhoff Bernd Wollnik Shahida Moosa Source Type: research