The Radiological and Histological Phenotype of Skeletal Abnormalities in Fetal -Related Syndrome.

Mutations in give rise to a syndromic disorder with rhizomelic short stature with microretrognathia and developmental delay. 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 mutation, and we suggest that the skeletal phenotype in -related syndrome has more resemblance with ER stress than with a defect in collagen 1 metabolism.