Pages that link to "Q52846786"
Jump to navigation
Jump to search
The following pages link to Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA. (Q52846786):
Displaying 4 items.
- A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations (Q48307234) (← links)
- A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder. (Q52691549) (← links)
- FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature (Q58795779) (← links)
- Septo-optic dysplasia caused by a novel FLNA splice site mutation: a case report (Q92992906) (← links)