Dursun syndrome
Dursun syndrome
Definition
A syndromic disease caused by mutation in the G6PC3 gene, characterized by familial pulmonary arterial hypertension, leukopenia, and atrial septal defect.
Also known as familial pulmonary arterial hypertension leucopenia and atrial septal defect, familial pulmonary arterial hypertension, leucopenia, and atrial septal defect — per MONDO
Also identified as
- Orphanet 178503 per MONDO