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

• Main Authors: Sonal Gupta (Author), Praveen Mathur (Author), Ashwani Kumar Mishra (Author), Krishna Mohan Medicherla (Author), Obul Reddy Bandapalli (Author), Prashanth Suravajhala (Author)
• Format: Book
• Published: MDPI AG, 2023-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...