Mauro Lecca

Pavia, Italy

Last Updated: 09/26/2026

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Found 10 publications

Mitochondrial DNA analysis in a cohort of stillbirths with brainstem and cardiac conduction system abnormalities.

Mitochondrial DNA analysis in a cohort of stillbirths with brainstem and cardiac conduction system abnormalities.

Journal: Mitochondrion
Published: October 28, 2025

Phenotypic Refinement of ESAM-Related Tight-Junctionopathy: Novel Genetic and Ocular Findings and Literature Review.

Phenotypic Refinement of ESAM-Related Tight-Junctionopathy: Novel Genetic and Ocular Findings and Literature Review.

Journal: Molecular genetics & genomic medicine
Published: October 09, 2025

CTLA4 Alteration and Neurologic Manifestations: A New Family with Large Phenotypic Variability and Literature Review.

CTLA4 Alteration and Neurologic Manifestations: A New Family with Large Phenotypic Variability and Literature Review.

Journal: Genes
Published: January 30, 2025

Large familial chromosomal duplications without apparent disease phenotypes: how to deal with them in prenatal diagnosis?

Large familial chromosomal duplications without apparent disease phenotypes: how to deal with them in prenatal diagnosis?

Journal: Pediatric research
Published: December 13, 2024

Novel molecular, structural and clinical findings in an Italian cohort of congenital cataract.

Novel molecular, structural and clinical findings in an Italian cohort of congenital cataract.

Journal: Clinical genetics
Published: January 12, 2024

Commentary on "Craniofacial Syndromes and class III phenotype: common genotype fingerprints? A scoping review and meta-analysis".

Commentary on "Craniofacial Syndromes and class III phenotype: common genotype fingerprints? A scoping review and meta-analysis".

Journal: Pediatric research
Published: December 15, 2023

Further evidence supporting the role of GTDC1 in glycine metabolism and neurodevelopmental disorders.

Further evidence supporting the role of GTDC1 in glycine metabolism and neurodevelopmental disorders.

Journal: European journal of human genetics : EJHG
Published: November 29, 2023

Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage.

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

Identification of bi-allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3.

Identification of bi-allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3.

Journal: Clinical genetics
Published: December 19, 2022

Acute megakaryoblastic leukemia with a novel GATA1 mutation in a second trimester stillborn fetus with trisomy 21.

Acute megakaryoblastic leukemia with a novel GATA1 mutation in a second trimester stillborn fetus with trisomy 21.

Journal: Leukemia & lymphoma
Published: March 30, 2021
Showing 1-10 of 10

Last Updated: 09/26/2026