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MESOMELIC DYSPLASIAS ASSOCIATED WITH THE <i>HOXD</i> LOCUS ARE CAUSED BY REGULATORY REALLOCATIONS

2021-02-02

Abstract excerpt

<h4>ABSTRACT</h4> Some human families display severe shortening and bending of the radius and ulna, a condition referred to as mesomelic dysplasia. Many of these families contain chromosomal rearrangements at 2q31, where the human HOXD locus maps. In mice, the dominant X-ray-induced Ulnaless inversion of the HoxD gene cluster produces a similar phenotype suggesting that the same mechanism is responsible for th...

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Literature Corpus work
9c8b8788-2fa2-559e-8115-ead9b24ddb62
DOI
10.1101/2021.02.01.429171
Open publication

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