Research Article Ireland
A Novel de novo Translocation (derXt(X;13) (q25;q12.11)dn) Manifesting As A Phenotypic Overlap with A Glycosylation Disorder: A Case Report
Published On: 2025-08-22 Authors: Caroline Hart, Ellen Crushell, Padraic Curran, Clare Brenner, Bryan Lynch, Dirk J. Lefeber, Sally Ann Lynch, Patricia Fitzsimons, Ina Knerr