| Entry |
|
|---|
| Name |
|
|---|
| Type |
Loss of function
|
|---|
| Gene |
|
|---|
| Organism |
hsa_var Human gene variants (Homo sapiens)
|
|---|
| Variation |
|
|---|
| Network |
|
|---|
| Disease |
| H00250 | Congenital nongoitrous hypothyroidism (CHNG) |
|
|---|
| Reference |
|
|---|
| Authors |
Vlaeminck-Guillem V, Espiard S, Flamant F, Wemeau JL |
|---|
| Title |
TRalpha receptor mutations extend the spectrum of syndromes of reduced sensitivity to thyroid hormone. |
|---|
| Journal |
|
|---|
| Reference |
|
|---|
| Authors |
Bassett JH, Williams GR |
|---|
| Title |
Role of Thyroid Hormones in Skeletal Development and Bone Maintenance. |
|---|
| Journal |
|
|---|
| Reference |
|
|---|
| Authors |
Dumitrescu AM, Refetoff S |
|---|
| Title |
Impaired Sensitivity to Thyroid Hormone: Defects of Transport, Metabolism and Action |
|---|
| Journal |
Endotext (2000) |
|---|
| Reference |
|
|---|
| Authors |
Singh BK, Yen PM |
|---|
| Title |
A clinician's guide to understanding resistance to thyroid hormone due to receptor mutations in the TRalpha and TRbeta isoforms. |
|---|
| Journal |
|
|---|
| Reference |
|
|---|
| Authors |
Cortes E, Pigrau C, Barbera J, Almirante B |
|---|
| Title |
Cellulitis and spondylitis due to Streptococcus pneumoniae. |
|---|
| Journal |
|
|---|
| LinkDB |
|
|---|
