Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan-Herndon-Dudley Syndrome
出版年份 2017 全文链接
标题
Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan-Herndon-Dudley Syndrome
作者
关键词
-
出版物
HUMAN MUTATION
Volume 38, Issue 3, Pages 260-264
出版商
Wiley
发表日期
2016-11-02
DOI
10.1002/humu.23140
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Redefining the Pediatric Phenotype of X-Linked Monocarboxylate Transporter 8 (MCT8) Deficiency
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- Further Insights into the Allan-Herndon-Dudley Syndrome: Clinical and Functional Characterization of a Novel MCT8 Mutation
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- Psychomotor Retardation Caused by a Defective Thyroid Hormone Transporter: Report of Two Families with Different MCT8 Mutations
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