A case of West syndrome and global developmental delay in a child with a heterozygous mutation in the TBL1XR1 gene: A case report
Sign Up to like & getrecommendations! Published in 2023 at "Medicine"
DOI: 10.1097/md.0000000000033744
Abstract: Background: TBL1XR1, also known as IRA1 or TBLR1, encodes a protein that is localized in the nucleus and is expressed in most tissues. TBL1XR1 binds to histones H2B and H4 in vitro and functions in… read more here.
Keywords: tbl1xr1 gene; tbl1xr1; child; case ... See more keywords