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Is There Any Mosaicism in REarranged During Transfection Variant in Hirschsprung Disease’s Patients?
BACKGROUND: Hirschsprung 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; however...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8960445/ https://www.ncbi.nlm.nih.gov/pubmed/35359901 http://dx.doi.org/10.3389/fped.2022.842820 |