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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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Detalles Bibliográficos
Autores principales: Dworschak, Gabriel C., van Rooij, Iris A. L. M., Reutter, Heiko M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8466114/
https://www.ncbi.nlm.nih.gov/pubmed/34573284
http://dx.doi.org/10.3390/genes12091298