Article

Combinatorial effects on gene expression at the <i>Lbx1</i> / <i>Fgf8</i> locus resolve Split-Hand/Foot Malformation type 3

2022-02-10

Abstract excerpt

<h4>ABSTRACT</h4> Split-Hand/Foot Malformation type 3 (SHFM3) is a congenital limb malformation associated with tandem duplications at the LBX1 / FGF8 locus. Yet, the disease patho-mechanism remains unsolved. Here we investigated the functional consequences of SHFM3-associated rearrangements on chromatin conformation and gene expression in vivo in transgenic mice. We show that the Lbx1 / Fgf8 locus consists...

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Literature Corpus work: ef6cf27b-ad7a-531e-bdb1-f25b897e6998
DOI: 10.1101/2022.02.09.479724

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