Identification of the thyroid transcription factors (TTFs), NKX2-1, FOXE1, PAX8 and HHEX,
has considerably advanced our understanding of thyroid development, congenital thyroid …

Chorea is defined by the presence of abnormal, involuntary, continuous, random
movements that results from a number of autoimmune, hereditary, vascular, metabolic, drug …

Background NKX2-1 encodes a transcription factor with large impact on the development of
brain, lung and thyroid. Germline mutations of NKX2-1 can lead to dysfunction and …

Objective Results of the screening of disease causative mutations in congenital
hypothyroidism (CH) vary significantly, depending on the sequence strategy, patients' …

Background: Congenital hypothyroidism (CH) is a frequent disease occurring with an
incidence of about 1/2500 newborns/year. In 80–85% of the cases CH is caused by …

Context Within the last two decades, heterozygous loss-of-function PAX8 mutations have
been reported in patients with a wide degree of thyroid gland dysfunction and growth …

BACKGROUND: Mutations in the NK2 homeobox 1 (NKX2-1) gene are associated with lung
disease in infants and children. We hypothesize that disruption of normal surfactant gene …

Benign hereditary chorea (BHC) is a rare autosomal dominant condition characterized by
early onset, non-progressive chorea, usually caused by mutations in the thyroid transcription …

Benign hereditary chorea (BHC) is a rare genetically heterogeneous movement disorder, in
which conventional neuroimaging has been reported as normal in most cases. Cystic …

Primary congenital hypothyroidism (CH) is a common neonatal endocrine disorder
characterized by elevated concentrations of thyroid stimulating hormone (TSH) and low …