Associated Papers
A novel ARCN1 splice-site variant in a Chinese girl with central precocious puberty, intrauterine growth restriction, microcephaly, and microretrognathia.
Chang G et al.
Bmc Pediatrics, 2024
Heritable Skeletal Disorders Arising from Defects in Processing and Transport of Type I Procollagen from the ER: Perspectives on Possible Therapeutic Approaches.
Cutrona MB et al.
Handbook of Experimental Pharmacology, 2018
ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects.
Izumi K et al.
American Journal of Human Genetics, 2016
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