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MeSH:(Congenital Hypothyroidism/genetics*)

1.Clinical genetics of defects in thyroid hormone synthesis.

Min Jung KWAK

Annals of Pediatric Endocrinology & Metabolism 2018;23(4):169-175

2.TUBB1 mutation in children with congenital hypothyroidism and thyroid dysgenesis in Shandong, China.

Chun-Hui SUN ; Wen-Miao LIU ; Miao-Miao LI ; Hui ZOU ; Shi-Guo LIU ; Fang WANG

Chinese Journal of Contemporary Pediatrics 2019;21(10):972-976

3.Characteristics of DUOXA2 gene mutation in children with congenital hypothyroidism.

Min-Yi TAN ; Yong-Lan HUANG ; Bei LI ; Xiang JIANG ; Qian-Yu CHEN ; Xue-Fang JIA ; Cheng-Fang TANG ; Li LIU

Chinese Journal of Contemporary Pediatrics 2017;19(1):59-63

4.Variant analysis of a patient with dyshormonogenesis due to congenital hypothyroidism.

Yuqiang LYU ; Ning XUE ; Kaihui ZHANG ; Junjie XU ; Yi LIU ; Zhongtao GAI

Chinese Journal of Medical Genetics 2018;35(6):836-839

5.Results of neonatal screening for congenital hypothyroidism and hyperphenylalaninemia in Zhejiang province from 1999 to 2022.

Duo ZHOU ; Rulai YANG ; Xinwen HUANG ; Xiaolei HUANG ; Xin YANG ; Huaqing MAO ; Jianbin YANG ; Zhengyan ZHAO

Journal of Zhejiang University. Medical sciences 2023;52(6):683-692

7.Clinical phenotype and genetic analysis of a child with 14q12q13 microdeletion syndrome manifesting as congenital hypothyroidism.

Jie WANG ; Hongjuan LI ; Shuhua YUAN ; Xuemei SUN ; Xi PENG ; Yanyan HU

Chinese Journal of Medical Genetics 2023;40(5):598-603

8.Identification of a novel missense variant of the KAT6B gene in a child with Say-Barber-Biesecker-Young-Simpson syndrome.

Ruohao WU ; Wenting TANG ; Kunyin QIU ; Yu LI ; Zhanwen HE

Chinese Journal of Medical Genetics 2021;38(6):561-564

9.A case of brain-lung-thyroid syndrome.

Rong LIANG ; Shuang OU ; Ying DING ; Chentao LIU

Journal of Central South University(Medical Sciences) 2022;47(3):396-400

10.Advances in genetic research of congenital hypothyroidism in China.

Xiao-Yu CHEN ; Xiao-Song QIN

Chinese Journal of Contemporary Pediatrics 2018;20(3):243-250

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