| 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 |
| H00251 | Thyroid dyshormonogenesis |
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| Reference |
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| Authors |
Zamproni I, Grasberger H, Cortinovis F, Vigone MC, Chiumello G, Mora S, Onigata K, Fugazzola L, Refetoff S, Persani L, Weber G |
|---|
| Title |
Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism. |
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| Journal |
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| Reference |
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| Authors |
Zheng X, Ma SG, Guo ML, Qiu YL, Yang LX |
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| Title |
Compound Heterozygous Mutations in the DUOX2/DUOXA2 Genes Cause 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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