Our group aims to identify candidate genes implicated in vertebral malformations. Probands with vertebral malformations and congenital scoliosis are enrolled on an ongoing basis into an IRB-approved study across multiple recruitment sites. Participant eligibility is confirmed through X-ray or other imaging reports documenting a vertebral malformation in the medical record, and the presence of additional birth defects is also recorded. Exome sequencing and subsequent analyses are performed to investigate the genetic contributors to these conditions.
KIAA1217