Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidism


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Cangul H., Morgan N. V., Forman J. R., SAĞLAM H., Aycan Z., Yakut T., ...Daha Fazla

CLINICAL ENDOCRINOLOGY, cilt.73, sa.5, ss.671-677, 2010 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 73 Sayı: 5
  • Basım Tarihi: 2010
  • Doi Numarası: 10.1111/j.1365-2265.2010.03849.x
  • Dergi Adı: CLINICAL ENDOCRINOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.671-677
  • Dokuz Eylül Üniversitesi Adresli: Evet

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.