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引用本文的文献
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Further Evidence That Defects in Main Thyroid Dysgenesis-Related Genes Are an Uncommon Etiology for Primary Congenital Hypothyroidism in Mexican Patients: Report of Rare Variants in , and .
Children (Basel). 2021 May 30;8(6):457. doi: 10.3390/children8060457.
本文引用的文献
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Targeted next-generation sequencing of thirteen causative genes in Chinese patients with congenital hypothyroidism.
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2
The genetic characteristics of congenital hypothyroidism in China by comprehensive screening of 21 candidate genes.
Eur J Endocrinol. 2018 Jun;178(6):623-633. doi: 10.1530/EJE-17-1017. Epub 2018 Apr 12.
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Next-generation sequencing of NKX2.1, FOXE1, PAX8, NKX2.5, and TSHR in 100 Chinese patients with congenital hypothyroidism and athyreosis.
Clin Chim Acta. 2017 Jul;470:36-41. doi: 10.1016/j.cca.2017.04.020. Epub 2017 Apr 25.
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Identification of deletions in children with congenital hypothyroidism and thyroid dysgenesis with the use of multiplex ligation-dependent probe amplification.
J Pediatr Endocrinol Metab. 2015 Jan;28(1-2):171-6. doi: 10.1515/jpem-2014-0040.
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Genetics of normal and abnormal thyroid development in humans.
Best Pract Res Clin Endocrinol Metab. 2014 Mar;28(2):133-50. doi: 10.1016/j.beem.2013.08.005. Epub 2013 Aug 20.
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Molecular analysis of the PAX8 gene in a sample of Mexican patients with primary congenital hypothyroidism: identification of the recurrent p.Arg31His mutation.
Clin Endocrinol (Oxf). 2012 Jan;76(1):148-50. doi: 10.1111/j.1365-2265.2011.04153.x.
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Transcription factor mutations and congenital hypothyroidism: systematic genetic screening of a population-based cohort of Japanese patients.
J Clin Endocrinol Metab. 2010 Apr;95(4):1981-5. doi: 10.1210/jc.2009-2373. Epub 2010 Feb 15.
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Polymorphic length of FOXE1 alanine stretch: evidence for genetic susceptibility to thyroid dysgenesis.
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Sequence analysis of thyroid transcription factor-1 gene reveals absence of mutations in patients with thyroid dysgenesis but presence of polymorphisms in the 5' flanking region and intron.
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Mutations in the gene encoding thyroid transcription factor-1 (TTF-1) are not a frequent cause of congenital hypothyroidism (CH) with thyroid dysgenesis.
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