Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidism


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

CLINICAL ENDOCRINOLOGY, vol.73, no.5, pp.671-677, 2010 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 73 Issue: 5
  • Publication Date: 2010
  • Doi Number: 10.1111/j.1365-2265.2010.03849.x
  • Title of Journal : CLINICAL ENDOCRINOLOGY
  • Page Numbers: pp.671-677

Abstract

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.