The Radiological and Histological Phenotype of Skeletal Abnormalities in Fetal ARCN1-Related Syndrome
Charlotte A. Houck,
Marije Koopmans,
Peter G. J. Nikkels
Abstract:Mutations in ARCN1 give rise to a syndromic disorder with rhizomelic short stature with microretrognathia and developmental delay. ARCN1 encodes the delta subunit of the coat protein I complex, which is required for intracellular trafficking of collagen 1 and which may also be involved in the endoplasmic reticulum (ER) stress response. In this paper we describe for the first time the skeletal histological abnormalities in an 18-week-old fetus with an ARCN1 mutation, and we suggest that the skeletal phenotype i… Show more
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