Is There Any Mosaicism in REarranged During Transfection Variant in Hirschsprung Disease's Patients?

• Egile Nagusiak: Kristy Iskandar (Egilea), Susan Simanjaya (Egilea), Taufik Indrawan (Egilea), Alvin Santoso Kalim (Egilea), Marcellus (Egilea), Didik Setyo Heriyanto (Egilea), Gunadi (Egilea)
• Formatua: Liburua
• Argitaratua: Frontiers Media S.A., 2022-03-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: Connect to this object online.

BackgroundHirschsprung disease (HSCR) is a heterogeneous genetic disease characterized by the absence of ganglion cells in the intestinal tract. The REarranged during Transfection (RET) is the most responsible gene for its pathogenesis. RET's somatic mosaicisms have been reported for HSCR; howe...