Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidism


Cangul H., Morgan N. V. , Forman J. R. , Saglam H., Aycan Z., YAKUT T., ...Daha Fazla

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

  • Cilt numarası: 73 Konu: 5
  • Basım Tarihi: 2010
  • Doi Numarası: 10.1111/j.1365-2265.2010.03849.x
  • Dergi Adı: CLINICAL ENDOCRINOLOGY
  • Sayfa Sayıları: ss.671-677

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.