Article
The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome.
Pediatric neurology - 1 Apr 2023
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
Abstract excerpt
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, previously associated with three dominantly inherited phenotypes: an axonal form of Charcot-Marie-Tooth disease type...
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