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

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,...

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Detalles Bibliográficos
Autores principales: Ajam-Hosseini, Mobarakeh, Parvini, Farshid, Angaji, Abdolhamid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9951407/
https://www.ncbi.nlm.nih.gov/pubmed/36829172
http://dx.doi.org/10.1186/s12920-023-01467-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9951407/
https://www.ncbi.nlm.nih.gov/pubmed/36829172
http://dx.doi.org/10.1186/s12920-023-01467-1

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