Davide Vecchio
Rome, 00165, Italy
Last Updated: 09/26/2026
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Found 44 publications
Clinical and Molecular Heterogeneity of MYH3-Related Arthrogryposis with a Novel MYH3 Variant.
Journal: Genes
Published: May 19, 2026
Unusual Head and Neck Vascular Patterns in Two Patients With Cornelia de Lange Syndrome: A Case-Based Insight Into Cerebrovascular Anomalies.
Journal: American journal of medical genetics. Part A
Published: December 24, 2025
Infantile-Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24-25 Deletion: Expanding the Genotypic Spectrum.
Journal: American journal of medical genetics. Part A
Published: August 19, 2025
A novel spliceosomopathy caused by de novo SF3B3 variants.
Journal: Genome medicine
Published: April 26, 2025
ADSL deficiency is a secondary mitochondrial disease affecting organelle homeostasis and ERK2/AKT signaling in a linear genotype-phenotype relation.
Journal: Cell reports
Published: October 24, 2024
Molecular and clinical Insights into KMT2E-Related O'Donnell-Luria-Rodan syndrome in a novel patient cohort.
Journal: European journal of medical genetics
Published: August 30, 2024
Widening the infantile hypotonia with psychomotor retardation and characteristic Facies-1 Syndrome's clinical and molecular spectrum through NALCN in-silico structural analysis.
Journal: Frontiers in genetics
Published: August 08, 2024
Spectrum of ERCC6-Related Cockayne Syndrome (Type B): From Mild to Severe Forms.
Journal: Genes
Published: March 19, 2024
Multidisciplinary, multicenter consensus for the care of patients affected with Sturge-Weber syndrome.
Journal: Orphanet journal of rare diseases
Published: February 11, 2024
Exploiting in silico structural analysis to introduce emerging genotype-phenotype correlations in DHCR24-related sterol biosynthesis disorder: a case study.
Journal: Frontiers in genetics
Published: October 05, 2023
Commentary: Case report: Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) presenting with liver cirrhosis and steroid-responsive interstitial pneumonia.
Journal: Frontiers in genetics
Published: July 09, 2023
Long-term follow-up in a pediatric patient with Ligneous Conjunctivitis due to PLG gene mutation in topical plasminogen treatment after successful use of ocular prosthesis for aesthetic rehabilitation: a case report.
Journal: Italian journal of pediatrics
Published: May 03, 2023
Last Updated: 09/26/2026