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, ÖMER; 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.

Copy For Citation

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

Clinical endocrinology, vol.73, no.5, pp.671-7, 2010 (SCI-Expanded)

Publication Type: Article / Article
Volume: 73 Issue: 5
Publication Date: 2010
Doi Number: 10.1111/j.1365-2265.2010.03849.x
Journal Name: Clinical endocrinology
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Page Numbers: pp.671-7
Bursa Uludag University Affiliated: Yes

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.