The website moderators have an ongoing research study for OTUD6B-associated syndrome at Baylor College of Medicine. The goals of the study are to better describe clinical features associated with OTUD6B-associated syndrome and to better define genotype-phenotype correlations to improve prognostic counselling and care for affected patients.
The study primarily involves collection of medical records, completion of a health survey by the patient’s family, and completion of a clinical table by the patient’s physician. A blood sample may be collected from the patient for functional analysis if the patient/family consents to this. Please contact the website moderators for more information about the study.
OTUD6B