Monogenic Thyroid Disorder / 대한갑상선학회지
Journal of Korean Thyroid Association
;
: 83-93, 2012.
Article
in Korean
| WPRIM
| ID: wpr-10857
ABSTRACT
Monogenic disorder is a single gene disorder resulted of a single mutated gene. Monogenic disorder has benefits in early diagnosis and precious prediction of disease course. Furthermore, monogenic disorder could provide an informative knowledge to the understanding of related pathophysiology. Thyroid monogenic disorder could occur in various steps, such as thyroid development, hormonogenesis, TSH-receptor signaling, thyroid hormone transport and end organ response. Here, we reviewed of congenital hypothyroidism, congenital hyperthyroidism and thyroid hormone resistance syndrome.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Thyroid Gland
/
Thyroid Hormone Resistance Syndrome
/
Congenital Hypothyroidism
/
Early Diagnosis
/
Hyperthyroidism
Type of study:
Diagnostic study
/
Screening study
Language:
Korean
Journal:
Journal of Korean Thyroid Association
Year:
2012
Type:
Article
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