Endocrine Abstracts

TTF1/NKX2.1 is a transcription factor expressed in thyroid, lung and brain. Several heterozygous mutations have been described in patients with primary congenital hypothyroidism, respiratory distress and benign hereditary chorea, typical aspects of the ‘thyroid–lung–brain syndrome’.We recently studied a family affected by some of these features, and the direct sequencing of the NKX2.1 gene demonstrated an heterozygous deletion of a cy...