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

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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Bibliographic Details
Main Authors: Zhi-Jie Xia, Xin-Xin I. Zeng, Mitali Tambe, Bobby G. Ng, P. Duc S. Dong, Hudson H. Freeze
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-09-01
Series:Frontiers in Cell and Developmental Biology
Subjects:
Saul–Wilson syndrome
COG4
glypican
WNT4
zebrafish
early development
Online Access:https://www.frontiersin.org/articles/10.3389/fcell.2021.720688/full

Internet

https://www.frontiersin.org/articles/10.3389/fcell.2021.720688/full

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