The American Journal of Human Genetics
Volume 99, Issue 2, 4 August 2016, Pages 451-459
ReportARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects
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Keywords
exome sequencing
micrognathia
short stature
microcephalic dwarfism
intracellular trafficking
ER stress
ARCN1-related syndrome
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These authors contributed equally to this work
© 2016 American Society of Human Genetics.