| Entry |
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| Name |
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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 |
| H00251 | Thyroid dyshormonogenesis |
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| Reference |
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| Authors |
Coyle B, Reardon W, Herbrick JA, Tsui LC, Gausden E, Lee J, Coffey R, Grueters A, Grossman4 A, Phelps PD, Luxon L, Kendall-Taylor P, Scherer SW, Trembath RC |
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| Title |
Molecular analysis of the PDS gene in Pendred syndrome. |
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| Journal |
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| Reference |
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| Authors |
Napiontek U, Borck G, Muller-Forell W, Pfarr N, Bohnert A, Keilmann A, Pohlenz J |
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| Title |
Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene. |
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| Journal |
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| Reference |
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| Authors |
Kwak MJ |
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| Title |
Clinical genetics of defects in thyroid hormone synthesis. |
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| Journal |
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| Reference |
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| Authors |
Targovnik HM, Citterio CE, Rivolta CM |
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| Title |
Iodide handling disorders (NIS, TPO, TG, IYD). |
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| Journal |
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| Reference |
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| Authors |
Grasberger H, Refetoff S |
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| Title |
Genetic causes of congenital hypothyroidism due to dyshormonogenesis. |
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| Journal |
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| LinkDB |
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