A recent study analyzes a Chinese family affected by Townes-Brocks syndrome linked to a novel variant of the SALL1 gene. This research contributes to the understanding of genetic factors in this rare condition.
analysis of a chinese pedigree affected with townes brocks syndrome due to a novel variant of sall1 gene and a literature review
Original title: “[Analysis of a Chinese pedigree affected with Townes-Brocks syndrome due to a novel variant of SALL1 gene and a literature review].”