ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects

Published 2016 View Full Article

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Title
ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects
Authors
Keywords
exome sequencing, micrognathia, short stature, microcephalic dwarfism, intracellular trafficking, ER stress, ARCN1, -related syndrome
Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 99, Issue 2, Pages 451-459
Publisher
Elsevier BV
Online
2016-07-30
DOI
10.1016/j.ajhg.2016.06.011

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