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

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

Abstract 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),...

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Bibliographic Details
Main Authors: Mobarakeh Ajam-Hosseini, Farshid Parvini, Abdolhamid Angaji
Format: Article
Language:English
Published: BMC 2023-02-01
Series:BMC Medical Genomics
Subjects:
SALL4 gene
Duane-raidal ray
Case report
Nonsense mutation
Iran
Online Access:https://doi.org/10.1186/s12920-023-01467-1

Internet

https://doi.org/10.1186/s12920-023-01467-1

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