Article

PRDM1 DNA-binding zinc finger domain is required for normal limb development and is disrupted in Split Hand/Foot Malformation

2022-11-18

Abstract excerpt

<h4>ABSTRACT</h4> Split Hand/Foot Malformation (SHFM) is a rare limb abnormality with clefting of the fingers and/or toes. For many patients, the genetic etiology is unknown. Through whole exome and targeted sequencing, we detected three novel variants in a transcription factor, PRDM1 that arose de novo in families with SHFM or segregated with the phenotype. PRDM1 is required for limb development; however, its rol...

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Literature Corpus work: 4a8a6757-1bc7-5f76-964c-f40d7e0f82e2
DOI: 10.1101/2022.11.16.22282191

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