Associated Papers
Pathogenicity of p.Phe147del in RET in familial Hirschsprung's disease.
Wu W et al.
American Journal of Translational Research, 2023
The RET gene encodes RET protein, which triggers intracellular signaling pathways for enteric neurogenesis, and RET mutation results in Hirschsprung's disease.
Bhattarai C et al.
Aims Neuroscience, 2022
What is new about the genetic background of Hirschsprung disease?
Luzón-Toro B et al.
Clinical Genetics, 2020
Whole Exome Sequencing Identifies a Novel Pathogenic RET Variant in Hirschsprung Disease.
Wu W et al.
Frontiers in Genetics, 2018
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