Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects.
Annabelle ArltNicolai KohlschmidtAndreas HentschelEnrika BartelsClaudia GroßAna TöpfPınar EdemNora SzaboAlbert SickmannNancy MeyerUlrike Schara-SchmidtJarred LauHanns LochmüllerRita HorvathYavuz OktayAndreas RoosSemra HizPublished in: Orphanet journal of rare diseases (2022)
Our combined findings may suggest incomplete penetrance for the p.Asp283His variant and provide novel insights into the molecular etiology of GS by adding impaired ER-function and altered protein secretion to the list of pathophysiological processes resulting in the clinical manifestation of GS.