Identification of potential causative gene of anorectal malformation

Abstract Anorectal malformations (ARM) constitute a heterogeneous group of rare congenital anomalies affecting the cloaca. Although genetic factors are implicated in ARM pathogenesis, our understanding of the underlying molecular mechanisms remains limited for both non-syndromic and syndromic ARM. D...

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Bibliographic Details
Published in:Scientific Reports
Main Authors: Pongsakorn Choochuen, Surasak Sangkhathat, Natthapon Khongcharoen, Natakorn Nokchan, Sasabong Tiyaamornwong, Kulpreeya Sirichamratsakul, Wararak Kaewrattana, Komwit Surachat
Format: Article
Language:English
Published: Nature Portfolio 2025-10-01
Subjects:
Anorectal malformations
Germline variant
Whole exome sequencing
Disease-causing mutations
Online Access:https://doi.org/10.1038/s41598-025-15066-w

Internet

https://doi.org/10.1038/s41598-025-15066-w

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