Table 1 Clinical presentation and mutations in the exons 9 and 10 of the THRB gene in the NIH RTH cohort
Exon | Amino acid change | Form | n. subjects |
|---|---|---|---|
9 | A317T | GRTH | 3 |
9 | R320L | GRTH | 1 |
9 | D322H | GRTH | 3 |
9 | G332R | GRTH | 1 |
9 | R338W | GRTH | 2 |
PRTH | 2 | ||
9 | G345S | GRTH | 3 |
9 | G347A | GRTH | 3 |
PRTH | 1 | ||
10 | R383H | GRTH | 1 |
10 | R438H | GRTH | 1 |
10 | M442V | GRTH | 1 |
PRTH | 1 | ||
10 | M442R | GRTH | 2 |
PRTH | 1 | ||
10 | FRSH 448 | PRTH | 1 |
10 | P453H | GRTH | 7 |
PRTH | 2 | ||
Not found | n/a | GRTH | 6 |
PRTH | 3 |