Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidism

Cangul, HakanMorgan, Neil V.FORMAN, Julia R.Saglam, HalilAYCAN, ZehraYakut, TahsinGulten, TunaTARIM, OmerBober, EceCesur, YAŞARKirby, Gail A.Pasha, ShanazKarkucak, MutluEREN, ErdalCETINKAYA, SemraBAS, VeyselDemir, KorcanYuca, Sevil A.Meyer, EstherKendall, MichaelaHogler, WolfgangBarrett, Timothy G.Maher, Eamonn R.2020-10-292020-10-292010-11-01Cangul H., Morgan N. V. , FORMAN J. R. , Saglam H., AYCAN Z., Yakut T., Gulten T., TARIM O., Bober E., Cesur Y., et al., -Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidism-, CLINICAL ENDOCRINOLOGY, cilt.73, ss.671-677, 2010http://hdl.handle.net/20.500.12645/26824Objective Nonsyndromic autosomal recessively inherited non-goitrous congenital hypothyroidism (CHNG) can be caused by mutations in TSHR, PAX8, TSHB and NKX2-5. We aimed to investigate mutational frequencies of these genes and genotype/phenotype correlations in consanguineous families with CHNG.Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidismArticleWOS:0002826350000177844927793710.1111/j.1365-2265.2010.03849.x