Whole Exome-Trio Analysis Reveals Rare Variants Associated with Congenital Pouch Colon

Anorectal malformations (ARM) are individually common, but Congenital Pouch Colon (CPC) is a rare anorectal anomaly that causes a dilated pouch and communication with the genitourinary tract. In this work, we attempted to identify de novo heterozygous missense variants, and further discovered varian...

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Detalles Bibliográficos
Autores principales: Gupta, Sonal, Mathur, Praveen, Mishra, Ashwani Kumar, Medicherla, Krishna Mohan, Bandapalli, Obul Reddy, Suravajhala, Prashanth
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10217150/
https://www.ncbi.nlm.nih.gov/pubmed/37238450
http://dx.doi.org/10.3390/children10050902

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