Cristina Peduto

7PUBLICATIONS
58CO-AUTHORS
Medical parasitologyGene mappingNeurogeneticsApplied and developmental psychology not elsewhere classifiedNeurology and neuromuscular diseases
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Journal

Publications (7)

|Aug 28, 2026
A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement.

|Aug 26, 2026
Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects.

|Jan 23, 2026
De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.

Kevin Uguen, Tiffany Bergot, Marie-Pier Scott-Boyer

|Jun 26, 2024
Joint contractures is a recurrent clinical feature of individuals with neurodevelopmental disorder due to FOXP1 likely gene disruptive variants.

Cristina Peduto, Gerarda Cappuccio, Roberta Zeuli

|Feb 25, 2023
Neurofibromatosis Type 1: Pediatric Aspects and Review of Genotype-Phenotype Correlations.

Cristina Peduto, Mariateresa Zanobio, Vincenzo Nigro

|Jul 25, 2022
Postnatal microcephaly and retinal involvement expand the phenotype of RPL10-related disorder.

Gerarda Cappuccio, Margherita Lucia De Bernardi, Alessia Morlando

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Frequent Collaborators

4 joint publications

Nicola Brunetti-Pierri

2 joint publications

Gerarda Cappuccio

2 joint publications

Giulio Piluso

2 joint publications

Ian Glass