Collecting clinical features and molecular variants in additional BLOC1S5/HPS11 patients is important to better characterize the disease.
The overall aims of our research are to identify additional patients with mutations in BLOC1S5 and to characterize the clinical spectrum.
Clinical (dermatological, ocular, haematological, gastrointestinal, pulmonary) (a clinical questionnaire is available on request) and genetic information is therefore necessary as well as photographs to obtain a better insight into the clinical variability of HPS11.
Instructions for the clinician involved: please request written consent for the use and storage of medical information with or without photographs.