Article

A novel de novo nonsense mutation in SALL4 causing duane radial ray syndrome: A case report and expanding the phenotypic spectrum

2023-01-18

Abstract excerpt

<title>Abstract</title> <p><bold>Background:</bold> <italic>SALL4</italic>, a member of the <italic>SALL</italic> genes family, encodes a zinc-finger transcriptional factor that either activates or represses gene transcription depending on cell type during embryonic development. <italic>SALL4</italic> mutations cause extremely variable conditions including Duane-radial ray (DRR), Okihiro, Holt-oram, Acro-renal oc...

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Literature Corpus work: b319e447-4de2-5430-b08c-a1701c650925
DOI: 10.21203/rs.3.rs-1935563/v1

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