SALL4 deletion and kidney and cardiac defects associated with VACTERL association
Author:
Funder
the Japan Agency for Medical Research and Development
Publisher
Springer Science and Business Media LLC
Link
https://link.springer.com/content/pdf/10.1007/s00467-024-06306-8.pdf
Reference9 articles.
1. Kagan M, Pleniceanu O, Vivante A (2022) The genetic basis of congenital anomalies of the kidney and urinary tract. Pediatr Nephrol 37:2231–2243. https://doi.org/10.1007/s00467-021-05420-1
2. van de Putte R, Dworschak GC, Brosens E, Reutter HM, Marcelis CLM, Acuna-Hidalgo R, Kurtas NE, Steehouwer M, Dunwoodie SL, Schmiedeke E, Marzheuser S, Schwarzer N, Brooks AS, de Klein A, Sloots CEJ, Tibboel D, Brisighelli G, Morandi A, Bedeschi MF, Bates MD, Levitt MA, Pena A, de Blaauw I, Roeleveld N, Brunner HG, van Rooij I, Hoischen A (2020) A genetics-first approach revealed monogenic disorders in patients with ARM and VACTERL anomalies. Front Pediatr 8:310. https://doi.org/10.3389/fped.2020.00310
3. Ajam-Hosseini M, Parvini F, Angaji A (2023) A novel de novo nonsense mutation in SALL4 causing duane radial ray syndrome: a case report and expanding the phenotypic spectrum. BMC Med Genom 16:33. https://doi.org/10.1186/s12920-023-01467-1
4. Borozdin W, Wright MJ, Hennekam RC, Hannibal MC, Crow YJ, Neumann TE, Kohlhase J (2004) Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum. J Med Genet 41:e102. https://doi.org/10.1136/jmg.2004.019505
5. Koshiba-Takeuchi K, Takeuchi JK, Arruda EP, Kathiriya IS, Mo R, Hui CC, Srivastava D, Bruneau BG (2006) Cooperative and antagonistic interactions between Sall4 and Tbx5 pattern the mouse limb and heart. Nat Genet 38:175–183. https://doi.org/10.1038/ng1707
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