Marzia Pollazzon

Reggio Nell'emilia, 42123, Italy

Last Updated: 09/26/2026

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Found 40 publications

Phenotypic Heterogeneity in Titinopathies with Peripheral Nerve Involvement in Pediatric Age: Two Case Reports.

Phenotypic Heterogeneity in Titinopathies with Peripheral Nerve Involvement in Pediatric Age: Two Case Reports.

Journal: Journal of clinical medicine

Published: March 26, 2026

A Boy with a Novel Variant in TCF20: An Expanded Phenotype and a Brief Review of the Literature.

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

Renal Hypoplasia and Oligomeganephronia in a Fetus with Wolf-Hirschhorn Syndrome.

Renal Hypoplasia and Oligomeganephronia in a Fetus with Wolf-Hirschhorn Syndrome.

Journal: Diagnostics (Basel, Switzerland)

Published: September 12, 2025

Genotypes and Phenotypes of Patients With TSPEAR-Related Disorder: Evidence of a Predominant Dental Phenotype.

Genotypes and Phenotypes of Patients With TSPEAR-Related Disorder: Evidence of a Predominant Dental Phenotype.

Journal: American journal of medical genetics. Part A

Published: August 05, 2025

3-M syndrome: evolution of the phenotype over time.

3-M syndrome: evolution of the phenotype over time.

Journal: Italian journal of pediatrics

Published: July 18, 2025

A Novel Variant in the SUOX Gene in the Oldest Individual with Late-Onset Isolated Sulfite Oxidase Deficiency.

A Novel Variant in the SUOX Gene in the Oldest Individual with Late-Onset Isolated Sulfite Oxidase Deficiency.

Journal: The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques

Published: December 16, 2024

Sensory-Motor Polyneuropathy in an 11-year- old Girl with a Pathogenic Variant in SMC1A: A Case Report.

Sensory-Motor Polyneuropathy in an 11-year- old Girl with a Pathogenic Variant in SMC1A: A Case Report.

Journal: Neuropediatrics

Published: November 14, 2024

Vertebral Bone Density Abnormalities in Fetal Ultrasound: A Distinctive Clinical Sign of Spondylocarpotarsal Synostosis Syndrome MYH3-Related.

Vertebral Bone Density Abnormalities in Fetal Ultrasound: A Distinctive Clinical Sign of Spondylocarpotarsal Synostosis Syndrome MYH3-Related.

Journal: Australasian journal of ultrasound in medicine

Published: September 15, 2024

'A novel TRIP4 Variant Associated with Peripheral Neuropathy: Expanding the Clinical and Genetic Spectrum of ASC1-Related Myopathy'.

'A novel TRIP4 Variant Associated with Peripheral Neuropathy: Expanding the Clinical and Genetic Spectrum of ASC1-Related Myopathy'.

Journal: Journal of neuromuscular diseases

Published: December 25, 2023

Prenatal Array-CGH Detection of 3q26.32q26.33 Interstitial Deletion Encompassing the SOX2 Gene: Ultrasound, Pathological, and Cytogenetic Findings.

Prenatal Array-CGH Detection of 3q26.32q26.33 Interstitial Deletion Encompassing the SOX2 Gene: Ultrasound, Pathological, and Cytogenetic Findings.

Journal: Fetal and pediatric pathology

Published: September 25, 2023

Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.

Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.

Journal: Molecular genetics & genomic medicine

Published: August 03, 2023

Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the DLX5/6 Genes.

Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the DLX5/6 Genes.

Journal: Genes

Published: June 30, 2023

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Last Updated: 09/26/2026