Gene mutations in children with permanent congenital hypothyroidism in Yunnan, China
Author:
Publisher
China Science Publishing & Media Ltd.
Subject
General Medicine
Link
https://engine.scichina.com/doi/pdf/C2AD205222B841DBA8772C187BCC7B06
Reference30 articles.
1. PETERS C, NICHOLAS A K, SCHOENMAKERS E. DUOX2/DUOXA2 mutations frequently cause congenital hypothyroidism that evades detection on newborn screening in the United Kingdom[J]. Thyroid, 2019, 29: 790-801.
2. HUANG M, LU X, DONG G. Analysis of mutation spectra of 28 pathogenic genes associated with congenital hypothyroidism in the Chinese Han population[J]. Front Endocrinol, 2021, 12:
3. VAISMAN M, ROSENTHAL D, CARVALHO D P. Enzymes involved in thyroid iodide organification[J]. Arq Bras Endocrinol Metab, 2004, 48: 9-15.
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1. Clinical, biochemical characteristics and genotype-phenotype analysis of congenital hypothyroidism diagnosed by newborn screening in China;Clinica Chimica Acta;2023-07
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