Clinical features and outcomes of 31 children with congenital hypothyroidism missed by neonatal screening
Author:
Publisher
China Science Publishing & Media Ltd.
Subject
General Medicine
Link
https://engine.scichina.com/doi/pdf/EDD7E544A5D546A29DE9A6714C4D667B
Reference18 articles.
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2. 黄永兰, 谭敏沂, 蒋 翔, 等. 疑似甲状腺激素合成障碍性先天性甲状腺功能减低症患儿DUOX2基因热点变异及临床转归[J]. 中华实用儿科临床杂志, 2019, 34(20): 1546-1549.
3. TAN M, HUANG Y, JIANG X. The prevalence, clinical, and molecular characteristics of congenital hypothyroidism caused by DUOX2 mutations: a population-based cohort study in Guangzhou[J]. Horm Metab Res, 2016, 48: 581-588.
4. 中华医学会儿科学分会内分泌遗传代谢学组, 中华预防医学会儿童保健分会新生儿疾病筛查学组. 先天性甲状腺功能减低症诊疗共识[J]. 中华儿科杂志, 2011, 49(6): 421-424.
5. RICHARDS S, AZIZ N, BALE S. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology[J]. Genet Med, 2015, 17: 405-424.
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