Aug 2026
CLUAP1 variants cause non-syndromic retinitis pigmentosa.
Jacqueline Fröhlich, F. Testa, Karolina Kaminska et al.
· Graefe's archive for clinica... · 0 citations
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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.
· American Journal of Medical... · 0 citations