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Article

Novel de novo ARCN1 intronic variant causes rhizomelic short stature with microretrognathia and developmental delay.

Cold Spring Harbor molecular case studies - 1 Dec 2020

Tidwell Timothy, Deshotel Malia, Palumbos Janice, Miller Chris, Bayrak-Toydemir Pinar, Carey John C

Abstract excerpt

The archain 1 (ARCN1) gene encodes the coatomer subunit delta protein and is a component of the COPI coatomer complex, which is involved in retrograde vesical trafficking from the Golgi complex to the endoplasmic reticulum. Variants in ARCN1 have recently been associated with rhizomelic short stature with microcephaly, microretrognathia, and developmental delay. Here we report a 3.5-yr-old boy with microcephaly,...

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Identifiers

PMID: 33154040
DOI: 10.1101/mcs.a005728
PMCID: PMC7784487

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