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...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2022-04-01
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| Series: | BMC Pediatrics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12887-022-03259-5 |