Gianluca Contro
Reggio Nell'emilia, 42123, Italy
Last Updated: 09/26/2026
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Found 12 publications
A Boy with a Novel Variant in TCF20: An Expanded Phenotype and a Brief Review of the Literature.
Journal: Children (Basel, Switzerland)
Published: October 09, 2025
3-M syndrome: evolution of the phenotype over time.
Journal: Italian journal of pediatrics
Published: July 18, 2025
Early-onset dysphagia and severe neurodevelopmental disorder as early signs in a patient with two novel variants in NARS1: a case report and brief review of the literature.
Journal: Neurogenetics
Published: February 02, 2024
Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage.
Journal: American journal of human genetics
Published: January 09, 2023
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.
Journal: Journal of medical genetics
Published: January 03, 2023
Novel Insights from Clinical Practice: Xia-Gibbs Syndrome with Pes Cavus, Conjunctival Melanosis, and Eye Asymmetry due to a de novo AHDC1 Gene Variant - A Case Report and a Brief Review of the Literature.
Journal: Molecular syndromology
Published: November 16, 2021
Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White-Sutton Syndrome: Case Report and Review of the Literature.
Journal: Genes
Published: May 25, 2021
Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding.
Journal: Neurogenetics
Published: June 15, 2020
A novel ABCC6 variant causative of pseudoxanthoma elasticum.
Journal: Human genome variation
Published: March 14, 2019
Iron and Ferritin Modulate MHC Class I Expression and NK Cell Recognition.
Journal: Frontiers in immunology
Published: November 16, 2018
Showing 1-12 of 12
Last Updated: 09/26/2026