| Entry |
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| Name |
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| Type |
Loss of function
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| Gene |
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| Organism |
hsa_var Human gene variants (Homo sapiens)
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| Variation |
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| Network |
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| Disease |
| H00650 | Allan-Herndon-Dudley syndrome |
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|---|
| Reference |
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|---|
| Authors |
Yamamoto T, Shimojima K, Umemura A, Uematsu M, Nakayama T, Inoue K |
|---|
| Title |
SLC16A2 mutations in two Japanese patients with Allan-Herndon-Dudley syndrome. |
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| Journal |
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|---|
| Reference |
|
|---|
| Authors |
Dumitrescu AM, Refetoff S |
|---|
| Title |
Impaired Sensitivity to Thyroid Hormone: Defects of Transport, Metabolism and Action |
|---|
| Journal |
Endotext (2000) |
|---|
| Reference |
|
|---|
| Authors |
Novara F, Groeneweg S, Freri E, Estienne M, Reho P, Matricardi S, Castellotti B, Visser WE, Zuffardi O, Visser TJ |
|---|
| Title |
Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan-Herndon-Dudley Syndrome. |
|---|
| Journal |
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| LinkDB |
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