Isobutyryl‐CoA dehydrogenase deficiency associated with autism in a girl without an alternative genetic diagnosis by trio whole exome sequencing: A case report

by Maria Eleftheriadou, Evita Medici‐ van den Herik, Kyra Stuurman, Yolande vanBever, Debby M. E. I. Hellebrekers, Marjon vanSlegtenhorst, George Ruijter, Tahsin Stefan Barakat
Published 2021-02-01