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...

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Detalles Bibliográficos
Autores principales: Iskandar, Kristy, Simanjaya, Susan, Indrawan, Taufik, Kalim, Alvin Santoso, Marcellus, Heriyanto, Didik Setyo, Gunadi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
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

Internet

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

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