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RET enhancer haplotype-dependent remodeling of the human fetal gut development program

Hirschsprung disease (HSCR) is associated with deficiency of the receptor tyrosine kinase RET, resulting in loss of cells of the enteric nervous system (ENS) during fetal gut development. The major contribution to HSCR risk is from common sequence variants in RET enhancers with additional risk from...

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Detalles Bibliográficos
Autores principales: Chatterjee, Sumantra, Fries, Lauren E., Yaacov, Or, Hu, Nan, Berk-Rauch, Hanna E., Chakravarti, Aravinda
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10664930/
https://www.ncbi.nlm.nih.gov/pubmed/37948459
http://dx.doi.org/10.1371/journal.pgen.1011030