Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidism


Cangul H., Morgan N. V. , FORMAN J. R. , Saglam H., AYCAN Z., Yakut T., et al.

CLINICAL ENDOCRINOLOGY, cilt.73, ss.671-677, 2010 (SCI İndekslerine Giren Dergi)

Özet

Objective 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.