The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome

BACKGROUND: Cockayne syndrome (CS) is a DNA repair disorder primarily associated with pathogenic variants in ERCC6 and ERCC8. As in other Mendelian disorders, there are a number of genetically unsolved CS cases. METHODS: We ascertained five individuals with monoallelic pathogenic variants in MORC2,...

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Detalles Bibliográficos
Autores principales: Stafki, Seth A., Turner, Johnnie, Littel, Hannah R., Bruels, Christine C., Truong, Don, Knirsch, Ursula, Stettner, Georg M., Graf, Urs, Berger, Wolfgang, Kinali, Maria, Jungbluth, Heinz, Pacak, Christina A., Hughes, Jayne, Mirchi, Amytice, Derksen, Alexa, Vincent-Delorme, Catherine, Theil, Arjan F., Bernard, Geneviève, Ellis, David, Fassihi, Hiva, Lehmann, Alan R., Laugel, Vincent, Mohammed, Shehla, Kang, Peter B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier Science Publishing 2023
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10098370/
https://www.ncbi.nlm.nih.gov/pubmed/36791574
http://dx.doi.org/10.1016/j.pediatrneurol.2023.01.011

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