Characteristics of Allan-Herndon-Dudley Syndrome in Chinese children: Identification of two novel pathogenic variants of the SLC16A2 gene
ObjectiveThe aim of this study was to identify causative variants associated with Allan-Herndon-Dudley syndrome (AHDS) in two unrelated Chinese families, and to determine their potential pathogenicity. We also summarized the core clinical symptoms of AHDS by reviewing the related literature.MethodsG...
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| Egile Nagusiak: | , , , , , |
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| Formatua: | Liburua |
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Frontiers Media S.A.,
2022-11-01T00:00:00Z.
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A1234.567 |
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