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Author

Cristina Peduto

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2 papers indexed here

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Case report Open access Aug 2026

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement.

An 11-year-old male with compound heterozygous NSMCE2 variants and a phenotype consistent with MPD exhibited a bilateral developmental maculopathy, an ocular feature not previously associated with NSMCE2 deficiency, which may broaden the phenotypic spectrum associated with NSMCE2-related MPD.

Cristina Peduto, C. Huber, C. Paya 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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