The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome
Seth A. Stafki, Johnnie Turner, Hannah R. Littel, Christine C. Bruels, Don Truong, Ursula Knirsch, Georg M. Stettner, U. U. Graf, Wolfgang Berger, Maria Kinali, Heinz Jungbluth, Christina A. Pacak, Jayne Hughes, Amytice Mirchi, Alexa Derksen, Catherine Vincent‐Delorme, Arjan F. Theil, Geneviève Bernard, D. Ellis, Hiva Fassihi, Alan R. Lehmann, Vincent Laugel, Shehla Mohammed, Peter B. Kang
Topics & Concepts
Cockayne syndromeOMIM : Online Mendelian Inheritance in ManPhenotypeGeneticsBiologyMicrocephalyDNA repairAutism spectrum disorderNucleotide excision repairBioinformaticsAutismMedicineGenePsychiatryHereditary Neurological DisordersCongenital gastrointestinal and neural anomaliesWnt/β-catenin signaling in development and cancer