Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidism

Cangul, Hakan; Morgan, Neil; Forman, Julia; SAĞLAM, HALİL; AYCAN, ZEHRA; Yakut, Tahsin; Gulten, Tuna; Tarim, Omer; BÖBER, ECE; Cesur, Yasar; Kirby, Gail; Pasha, Shanaz; Karkucak, Mutlu; Eren, Erdal; Cetinkaya, Semra; Bas, Veysel; DEMİR, KORCAN; Yuca, Sevil; Meyer, Esther; Kendall, Michaela; Hogler, Wolfgang; Barrett, Timothy; Maher, Eamonn

doi:10.1111/j.1365-2265.2010.03849.x

Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidism

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, Scopus)

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
Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
Ankara Üniversitesi Adresli: Hayır

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.