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SLC16A2 mutations in two Japanese patients with Allan–Herndon–Dudley syndrome
Allan–Herndon–Dudley syndrome (AHDS) is a neurodevelopmental disorder that manifests as intellectual disability and motor developmental delay. Thyroid hormone transporter dysfunction due to SLC16A2 mutation is the underlying cause of this disorder. We identified a novel (P537del) and a recurrent (A1...
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| 發表在: | Hum Genome Var |
|---|---|
| Main Authors: | , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Nature Publishing Group
2014
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4785542/ https://ncbi.nlm.nih.gov/pubmed/27081503 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2014.10 |
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