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Article

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

BMC medical genomics - 24 Feb 2023

Ajam-Hosseini Mobarakeh, Parvini Farshid, Angaji Abdolhamid

Abstract excerpt

BACKGROUND: SALL4, a member of the SALL genes family, encodes a zinc-finger transcriptional factor that either activates or represses gene transcription depending on cell type during embryonic development. SALL4 mutations cause extremely variable conditions including Duane-radial ray (DRR), Okihiro, Holt-oram, Acro-renal ocular and IVIC syndromes, all with autosomal dominant inheritance pattern. However, all...

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PMID: 36829172
DOI: 10.1186/s12920-023-01467-1
PMCID: PMC9951407

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