Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidism

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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 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 73 Issue: 5
  • Publication Date: 2010
  • Doi Number: 10.1111/j.1365-2265.2010.03849.x
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.671-677
  • Bezmialem Vakıf University Affiliated: No


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.