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Emison, E.S., Garcia-Barcelo, M., Grice, E.A., Lantieri, F., Amiel, J., Burzynski, G., et al. (2010) Differential Contributions of Rare and Common, Coding and Noncoding Ret Mutations to Multifactorial Hirschsprung Disease Liability. The American Journal of Human Genetics, 87, 60-74.
https://doi.org/10.1016/j.ajhg.2010.06.007

has been cited by the following article:

• TITLE: The Cause of Hirschsprung’s Disease in Bardet Biedl Syndrome in Children

  AUTHORS: Naga Venkata Chakra Satyanarayana Amarthi, Terry Oroszi

  KEYWORDS: Hirschsprung’s Disease, Bardet-Biedl Syndrome, Ciliopathy, Genetics, Developmental Disorder

  JOURNAL NAME: Surgical Science, Vol.16 No.1, January 16, 2025

  ABSTRACT: Hirschsprung’s disease (HSCR) is a developmental disorder characterized by the absence of ganglion cells in the distal colon, leading to functional obstruction. Bardet-Biedl syndrome (BBS) is a rare ciliopathy associated with various clinical features, including HSCR. This review article aims to explore the underlying causes of HSCR in children with BBS, focusing on the genetic and developmental factors contributing to the pathogenesis of both conditions. We reviewed relevant literature, including peer-reviewed journal articles and case reports, to provide a comprehensive overview of the current understanding of the relationship between HSCR and BBS. Our findings highlight the complex interplay of genetic mutations, signaling pathways, and developmental processes involved in the pathogenesis of HSCR in BBS. Further research is needed to elucidate the precise mechanisms underlying this association and to develop targeted therapeutic strategies for children with HSCR and BBS.