B3GALT6 is a well-documented disease-related gene. Several B3GALT6-recessive variants have been reported to cause Ehlers–Danlos syndrome (EDS). To the best of our knowledge, no dominant B3GALT6 varian
The dataset contains the whole-exome sequencing data for 21 patients (anonymized) with VACTERL association, and of three pair of parents. These data may only be used for better understanding of associ
