| Entry |
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| Name |
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| Type |
Loss of function
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| Gene |
IYD iodotyrosine deiodinase 1 isoform 2 [KO: K17231]
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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 |
Moreno JC, Klootwijk W, van Toor H, Pinto G, D'Alessandro M, Leger A, Goudie D, Polak M, Gruters A, Visser TJ |
|---|
| Title |
Mutations in the iodotyrosine deiodinase gene and hypothyroidism. |
|---|
| Journal |
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|---|
| Reference |
|
|---|
| Authors |
Afink G, Kulik W, Overmars H, de Randamie J, Veenboer T, van Cruchten A, Craen M, Ris-Stalpers C |
|---|
| Title |
Molecular characterization of iodotyrosine dehalogenase deficiency in patients with hypothyroidism. |
|---|
| Journal |
|
|---|
| Reference |
|
|---|
| Authors |
Peters C, van Trotsenburg ASP, Schoenmakers N |
|---|
| Title |
DIAGNOSIS OF ENDOCRINE DISEASE: Congenital hypothyroidism: update and perspectives |
|---|
| Journal |
|
|---|
| Reference |
|
|---|
| Authors |
Grasberger H, Refetoff S |
|---|
| Title |
Genetic causes of congenital hypothyroidism due to dyshormonogenesis. |
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| Journal |
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| LinkDB |
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