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Article

The Radiological and Histological Phenotype of Skeletal Abnormalities in Fetal ARCN1-Related Syndrome.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society - 1 Jan 2000

Houck Charlotte A, Koopmans Marije, Nikkels Peter G J

Abstract excerpt

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...

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Identifiers

PMID: 38044464
DOI: 10.1177/10935266231213785
PMCID: PMC11015707

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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