The Role of De Novo Variants in Formation of Human Anorectal Malformations

Anorectal malformations (ARM) represent a rare birth defect of the hindgut that occur in approximately 1 in 3000 live births. Around 60% of ARM occur with associated anomalies including defined genetic syndromes and associations with chromosomal aberrations. The etiology of ARM is heterogeneous, wit...

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Bibliographic Details
Main Authors: Gabriel C. Dworschak, Iris A. L. M. van Rooij, Heiko M. Reutter
Format: Article
Language:English
Published: MDPI AG 2021-08-01
Series:Genes
Subjects:
Online Access:https://www.mdpi.com/2073-4425/12/9/1298