| 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 |
Avbelj M, Tahirovic H, Debeljak M, Kusekova M, Toromanovic A, Krzisnik C, Battelino T |
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| Title |
High prevalence of thyroid peroxidase gene mutations in patients with thyroid dyshormonogenesis. |
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| Journal |
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| Reference |
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| Authors |
Peters C, van Trotsenburg ASP, Schoenmakers N |
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| Title |
DIAGNOSIS OF ENDOCRINE DISEASE: Congenital hypothyroidism: update and perspectives |
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| Journal |
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| Reference |
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| Authors |
Vono-Toniolo J, Kopp P |
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| Title |
Thyroglobulin gene mutations and other genetic defects associated with congenital hypothyroidism. |
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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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