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Author

S. Dyack

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2 papers indexed here

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Review Open access Oct 2026

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...

Nadia Bouhamdani, Raphael Fournier, S. Dyack et al. · 0 citations
Open access Aug 2026

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder with Congenital Heart Defects

The findings suggest that LRP1 haploinsufficiency is associated with a syndromic NDD, and Phenotypic differences in cardiac and neurologic involvement between participants with pLOF and missense variants suggest the possibility of alternate disease mechanisms.

Alyssa L. Rippert, G. Arnadottir, Laura Bedinger et al. · 0 citations

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