Novel TSHR mutations in consanguineous families with congenital non-goitrous hypothyroidism
Abstract Objective: Non-syndromic 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 wit...
| Published in: | Clinical Endocrinology |
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| Language: | English |
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Wiley-Blackwell
2011
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| Online Access: | http://hdl.handle.net/2262/54572 https://doi.org/10.1111/j.1365-2265.2010.03849.x |