Browse

Explore conditions, clinical trials, and the organisations running them.

← All categories

Up to: Hereditary disease · Endocrine system disorder · Syndromic disease

NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction

The NKX2-1 gene is located on chromosome 14 at 14q13.3 and encodes the NK2 homeobox 1 protein, a transcription factor that binds and activates thyroid specific genes. NKX2-1 was first reported in relation to autosomal dominant NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction in 1998.

0 trials tagged with this condition →