Retinitis pigmentosa and molar tooth sign caused by novel AHI1 compound heterozygote pathogenic variants
Abstract Background Joubert syndrome (JS) is a group of rare congenital disorders characterized by cerebellar vermis dysplasia, developmental delay, and retina dysfunctions. Herein, we reported a Chinese patient carrying a new variant in the AHI1 gene with mild JS, and the 3D structure of the affect...
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| Main Authors: | , , , , , |
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| Format: | Book |
| Published: |
BMC,
2021-10-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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