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

• Päätekijät: Sonal Gupta (Tekijä), Praveen Mathur (Tekijä), Ashwani Kumar Mishra (Tekijä), Krishna Mohan Medicherla (Tekijä), Obul Reddy Bandapalli (Tekijä), Prashanth Suravajhala (Tekijä)
• Aineistotyyppi: Kirja
• Julkaistu: MDPI AG, 2023-05-01T00:00:00Z.
• Aiheet: article
• Linkit: 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...