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SCYL2-related Autosomal Recessive Neurodevelopmental Disorders: Arthrogryposis Multiplex Congenita-4 and Beyond?

Marlene Malbos,Gabriella Vera,Harsh Sheth,Rhonda E. Schnur,Aurelien Juven,Anne-Claire Brehin,Jayesh Sheth,Ajit Gandhi, Faye L. Shapiro,Ange-Line Bruel,Florent Marguet,Amber Begtrup,Kristin G. Monaghan,Hana Safraou,Marie Brasseur-Daudruy,Frederic Tran Mau-Them,Yannis Duffourd,Laurence Faivre,Christel Thauvin-Robinet,Paul J. Benke,Christophe Philippe

Clinical Genetics（2024）

Cited 0|Views9
Key words
arthrogryposis,arthrogryposis multiplex congenital-4,loss-of-function,missense,SCYL2
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