A novel SALL1 C757T mutation in a Chinese family causes a rare disease --Townes-Brocks syndrome

Authors: Yunqian Chi, Yi Yao, Futao Sun, Wenhong Zhang, Zihan Zhang, Yunhe Wang, Wei Hao

Source: Italian Journal of Pediatrics, Vol 50, Iss 1, Pp 1-8 (2024)

Subject Terms: SALL1, Townes-Brocks syndrome, Whole-exome sequencing, Anorectal malformation, Triplet pregnancy, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://doaj.org/toc/1824-7288

Access URL: https://doaj.org/article/0c3ca6614bb4405baf4f0a920e6ecb01