E. Nikkola

Pontocerebellar hypoplasia type 2D in two Acadian families: functional RNA characterization of the recurrent SEPSECS c.388+3A>G variant

Pontocerebellar hypoplasia type 2D (PCH2D, OMIM #613811) is an ultra-rare autosomal recessive neurodevelopmental disorder caused by biallelic pathogenic variants in SEPSECS , which encodes a key enzyme required for selenoprotein biosynthesis. An extensive literature review conducted for this report identified a...