Publication: Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidism
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Date
2010-11-01T00:00:00Z
Authors
Authors
Cangul, Hakan
Morgan, Neil V.
FORMAN, Julia R.
Saglam, Halil
AYCAN, Zehra
Yakut, Tahsin
Gulten, Tuna
TARIM, Omer
Bober, Ece
Cesur, YAŞAR
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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.
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Citation
Cangul H., Morgan N. V. , FORMAN J. R. , Saglam H., AYCAN Z., Yakut T., Gulten T., TARIM O., Bober E., Cesur Y., et al., -Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidism-, CLINICAL ENDOCRINOLOGY, cilt.73, ss.671-677, 2010