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References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 1/02/2006 |
Symbol | THMD | ||
Location | 9q22 | ||
Name | thyroid hormone metabolism deficiency | ||
Corresponding gene | SECISBP2 | ||
Main clinical features |
| ||
Genetic determination
Function/system disorder
| Type
| disease
| |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| missense
|  
|  
| R540Q in exon 12
| |