A Dominant Heterozygous Mutation in COG4 Causes Saul–Wilson Syndrome, a Primordial Dwarfism, and Disrupts Zebrafish Development via Wnt Signaling

Saul–Wilson syndrome (SWS) is a rare, skeletal dysplasia with progeroid appearance and primordial dwarfism. It is caused by a heterozygous, dominant variant (p.G516R) in COG4, a subunit of the conserved oligomeric Golgi (COG) complex involved in intracellular vesicular transport. Our previous work h...

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Detalles Bibliográficos
Autores principales: Xia, Zhi-Jie, Zeng, Xin-Xin I., Tambe, Mitali, Ng, Bobby G., Dong, P. Duc S., Freeze, Hudson H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Cell and Developmental Biology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8476873/
https://www.ncbi.nlm.nih.gov/pubmed/34595172
http://dx.doi.org/10.3389/fcell.2021.720688

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8476873/
https://www.ncbi.nlm.nih.gov/pubmed/34595172
http://dx.doi.org/10.3389/fcell.2021.720688

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