A mild skeletal phenotype with overlapping features of Miller syndrome and functional characterisation of two new variants of human dihydroorotate dehydrogenase

Autor: Mero, Inger-Lise, Orozco Rodriguez, Juan Manuel, Bjørgo, Kathrine, Hankin, Renee Alexandra, Krupinska, Ewa, Kulseth, Mari Ann, Rossow, Marvin Anthony, Knecht, Wolfgang
Zdroj: In Heliyon 15 October 2024 10(19)
Databáze: ScienceDirect