Title: Macrocephaly and developmental delay caused by missense variants in RAB5C.
Authors: Koop K, Yuan W, Tessadori F, Rodriguez-Polanco WR, Grubbs J, Zhang B, Osmond M, Graham G, Sawyer S, Conboy E, Vetrini F, Treat K, Ploski R, Pienkowski VM, Klosowska A, Fieg E, Krier J, Mallebranche C, Alban Z, Aldinger KA, Ritter D, Macnamara E, Sullivan B, Herriges J, Alaimo JT, Helbig C, Ellis CA, Eyk C, Gecz J, Farrugia D, Osei-Owusu I, Ades L, Boogaard MJ, Fuchs S, Bakker J, Duran K, Dawson ZD, Lindsey A, Huang H, Baldridge D, Silverman GA, Grant BD, Raizen D, Network UD, Haaften G, Pak SC, Rehmann H, Schedl T, van Hasselt P
Journal: Hum Mol Genet
Published: 2023-08-08