Gonosomal Mosaicism for a Novel COL5A1 Pathogenic Variant in Classic Ehlers-Danlos Syndrome
Abstract
:1. Introduction
2. Materials and Methods
2.1. Family Enrollment and Sample Preparation
2.2. NGS Analysis
2.3. Conservation of the Variant
2.4. Sanger Sequencing
2.5. Digital Droplet PCR
3. Results
3.1. Case Report
3.2. Molecular Findings
4. Discussion
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Micale, L.; Foiadelli, T.; Russo, F.; Cinque, L.; Bassanese, F.; Granatiero, M.; Fusco, C.; Savasta, S.; Castori, M. Gonosomal Mosaicism for a Novel COL5A1 Pathogenic Variant in Classic Ehlers-Danlos Syndrome. Genes 2021, 12, 1928. https://doi.org/10.3390/genes12121928
Micale L, Foiadelli T, Russo F, Cinque L, Bassanese F, Granatiero M, Fusco C, Savasta S, Castori M. Gonosomal Mosaicism for a Novel COL5A1 Pathogenic Variant in Classic Ehlers-Danlos Syndrome. Genes. 2021; 12(12):1928. https://doi.org/10.3390/genes12121928
Chicago/Turabian StyleMicale, Lucia, Thomas Foiadelli, Federica Russo, Luigia Cinque, Francesco Bassanese, Matteo Granatiero, Carmela Fusco, Salvatore Savasta, and Marco Castori. 2021. "Gonosomal Mosaicism for a Novel COL5A1 Pathogenic Variant in Classic Ehlers-Danlos Syndrome" Genes 12, no. 12: 1928. https://doi.org/10.3390/genes12121928