ARCN1

Publications

Izumi K et al. ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects. Am J Hum Genet. 2016;99(2):451-9.  PMID: 27476655.

Reunert J et al. Transient N-glycosylation abnormalities likely due to a de novo loss-of-function mutation in the delta subunit of coat protein I. Am J Med Genet A. 2019;179(7):1371-1375.  PMID: 31075182.

Chang G, Yang F, Ying L, et al. A novel ARCN1 splice-site variant in a Chinese girl with central precocious puberty, intrauterine growth restriction, microcephaly, and microretrognathia. BMC Pediatr. 2024;24(1):838. Published 2024 Dec 27. doi:10.1186/s12887-024-05329-2

Ritter AL, Gold J, Hayashi H, et al. Expanding the phenotypic spectrum of ARCN1-related syndrome. Genet Med. 2022;24(6):1227-1237. doi:10.1016/j.gim.2022.02.005

Tidwell T, Deshotel M, Palumbos J, Miller C, Bayrak-Toydemir P, Carey JC. Novel de novo ARCN1 intronic variant causes rhizomelic short stature with microretrognathia and developmental delay. Cold Spring Harb Mol Case Stud. 2020;6(6):a005728. Published 2020 Dec 17. doi:10.1101/mcs.a005728