ea0029oc2.2 | Thyroid Clinical I | ICEECE2012
Muzza M.
, Zamproni I.
, Persani L.
, Cortinovis F.
, Vigone M.
, Rabbiosi S.
, Beccaria L.
, Visser T.
, Moreno J.
, Weber G.
, Fugazzola L.
Since the first identification of DUOX2 as an actor in the pathogenesis of congenital hypothyroidism (CH), several mutations have been associated with transient or permanent CH, with a high intra- and interfamilial phenotypic variability. In the present study, we report clinical and molecular studies of 7 unrelated children and 2 couple of siblings affected with CH and partial iodide organification defect (PIOD).We identified nine novel and five previous...