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Xia et al., 2021 - Google Patents

A single heterozygous mutation in COG4 disrupts zebrafish early development via Wnt signaling

Xia et al., 2021

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Document ID
3683475021712333664
Author
Xia Z
Zeng X
Tambe M
Ng B
Dong P
Freeze H
Publication year
Publication venue
bioRxiv

External Links

Snippet

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 …
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