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View article: Familial vitamin K metabolism deficiency responsible for a congenital binder phenotype
Familial vitamin K metabolism deficiency responsible for a congenital binder phenotype Open
A 4-month-old male born with a Binder Phenotype was admitted for the evacuation of a large subdural hematoma. The blood analysis revealed a prolonged prothrombin time due to vitamin K-dependent coagulation factor deficiency. Vitamin K part…
View article: Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience
Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience Open
Background The development of e-health technologies for teleconsultation and exchange of knowledge is one of the core purposes of European Reference Networks (ERNs), including the ERN EURO-NMD for rare neuromuscular diseases. Within ERNs, …
View article: Neurofibromatosis Type 1: Pediatric Aspects and Review of Genotype–Phenotype Correlations
Neurofibromatosis Type 1: Pediatric Aspects and Review of Genotype–Phenotype Correlations Open
Neurofibromatosis type 1 (NF1) is an autosomal dominant condition, with a birth incidence of approximately 1:2000–3000, caused by germline pathogenic variants in NF1, a tumor suppressor gene encoding neurofibromin, a negative regulator of …
View article: Patients with DeSanto–Shinawi syndrome: Further extension of phenotype from Italy
Patients with DeSanto–Shinawi syndrome: Further extension of phenotype from Italy Open
Here we describe three patients with neurodevelopmental disorders characterized by mild‐to‐moderate intellectual disability, mildly dysmorphic features, and hirsutism, all of which carry de novo sequence variants in the WW domain‐containin…
View article: Postnatal microcephaly and retinal involvement expand the phenotype of <scp><i>RPL10</i></scp>‐related disorder
Postnatal microcephaly and retinal involvement expand the phenotype of <span><i>RPL10</i></span>‐related disorder Open
Hemizygous missense variants in the RPL10 gene encoding a ribosomal unit are responsible for an X‐linked syndrome presenting with intellectual disability (ID), autism spectrum disorder, epilepsy, dysmorphic features, and multiple congenita…