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

• Hoofdauteurs: Sonal Gupta (Auteur), Praveen Mathur (Auteur), Ashwani Kumar Mishra (Auteur), Krishna Mohan Medicherla (Auteur), Obul Reddy Bandapalli (Auteur), Prashanth Suravajhala (Auteur)
• Formaat: Boek
• Gepubliceerd in: MDPI AG, 2023-05-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: 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...