(1)
Hart, C.; Crushell, E.; Curran, P.; Brenner, C.; Lynch, B.; Lefeber, D. J.; Lynch, S. A.; Fitzsimons, P.; Knerr, I. A Novel De Novo Translocation (derXt(X;13) (q25;Q12.11)dn) Manifesting As A Phenotypic Overlap With A Glycosylation Disorder: A Case Report. acmcr 2025, 9, 171-174.