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Author

Cristina Peduto

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.

Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin-maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246). The SMC5/6 complex plays essential roles in genome stability, DNA...

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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