Ardalan-Shoja-Kiuru syndrome--hereditary gelsolin amyloidosis plus retinitis pigmentosa

MeSH terms

• Amyloidosis, Familial / diagnosis
• Amyloidosis, Familial / genetics*
• Corneal Dystrophies, Hereditary / diagnosis
• Corneal Dystrophies, Hereditary / genetics*
• Cutis Laxa / diagnosis
• Cutis Laxa / genetics*
• Gelsolin / genetics*
• Humans
• Mutation / genetics
• Retinitis Pigmentosa / diagnosis
• Retinitis Pigmentosa / genetics*
• Syndrome