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Article

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

Genes - 24 Aug 2021

Dworschak Gabriel C, van Rooij Iris A L M, Reutter Heiko M

Abstract excerpt

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, with the individual environmental or genetic risk factors remaining unknown for the majority of cases. The occurrence...

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PMID: 34573284
DOI: 10.3390/genes12091298
PMCID: PMC8466114

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