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

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 statur...

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Detalles Bibliográficos
Autores principales: Tidwell, Timothy, Deshotel, Malia, Palumbos, Janice, Miller, Chris, Bayrak-Toydemir, Pinar, Carey, John C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2020
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7784487/
https://www.ncbi.nlm.nih.gov/pubmed/33154040
http://dx.doi.org/10.1101/mcs.a005728

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7784487/
https://www.ncbi.nlm.nih.gov/pubmed/33154040
http://dx.doi.org/10.1101/mcs.a005728

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