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hypothyroidism
- Congenital hypothyroidism is a partial or complete loss of function of the thyroid gland (hypothyroidism) that affects infants from birth (congenital). The thyroid ...
- Allan-Herndon-Dudley syndrome is a rare disorder of brain development that causes moderate to severe intellectual disability and problems with movement. This ...
- ... least 10 TSHB gene mutations involved in congenital hypothyroidism, a condition characterized by abnormally low levels of ... a form of the condition called central congenital hypothyroidism, which occurs when stimulation of thyroid hormone production ...
- ... individuals have reduced thyroid function from birth (congenital hypothyroidism), resulting in lower-than-normal levels of thyroid ... have a milder condition called compensated or subclinical hypothyroidism, in which thyroid hormone levels are within the ...
- ... mutations have been identified in people with congenital hypothyroidism, a condition characterized by abnormally low levels of ... levels remain low, causing mild to severe congenital hypothyroidism. Impaired thyroid stimulating hormone receptors may also disrupt ...
- ... Mutations in the TG gene can cause congenital hypothyroidism, a condition characterized by abnormally low levels of ... not have other signs and symptoms of congenital hypothyroidism (described above). It is unclear why enlargement of ...
- ... identified several DUOX2 gene mutations that cause congenital hypothyroidism, a condition characterized by a reduction of thyroid ... hormone levels are extremely low, causing severe congenital hypothyroidism. If only one copy of the DUOX2 gene ...
- ... cell membrane. TPO gene mutations can cause congenital hypothyroidism, a condition characterized by abnormally low levels of ... or reduced, leading to the features of congenital hypothyroidism. In most affected individuals, the thyroid gland is ...
- ... least 15 mutations in this gene cause congenital hypothyroidism, a condition characterized by abnormally low levels of ... Di Lauro R. PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis. Nat Genet. 1998 May; ...
- ... mutations have been identified in people with congenital hypothyroidism, a condition characterized by abnormally low levels of ... thyroid hormones. The signs and symptoms of congenital hypothyroidism associated with these gene mutations range from mild ...