A novel variant in SLC16A2 associated with typical Allan-Herndon-Dudley syndrome: a case report
Abstract Background Allan-Herndon-Dudley syndrome (AHDS) is an X-linked recessive neurodegenerative disorder caused by mutations in the SLC16A2 gene that encodes thyroid hormone transporter. AHDS has been rarely reported in China. Case presentation This study reported a novel splicing mutation in th...
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| Main Authors: | , , |
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| Format: | Book |
| Published: |
BMC,
2022-04-01T00:00:00Z.
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| Subjects: | |
| Online Access: | Connect to this object online. |
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Internet
Connect to this object online.3rd Floor Main Library
| Call Number: |
A1234.567 |
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| Copy 1 | Available |