Pathology
germline mutations in
- benign hereditary chorea (MIM.118700)
- choreoathetosis and hypothyroidism (16507635)
- choreoathetosis, hypothyroidism and respiratory distress (MIM.118700)
- congenital alveolar proteinosis
- congenital hypothyroidism and benign chorea without pulmonary distress (16507635)
References
DeFelice M, Silberschmidt D, DiLauro R, Xu Y, Wert SE, Weaver TE, Bachurski CJ, Clark JC, Whitsett JA. TTF-1 phosphorylation is required for peripheral lung morphogenesis, perinatal survival, and tissue-specific gene expression. J Biol Chem. 2003 Sep 12;278(37):35574-83. PMID: 12829717