Targeted next-generation sequencing of thirteen causative genes in Chinese patients with congenital hypothyroidism.

Long, Wei; Lu, Guanting; Zhou, Wenbai; Yang, Yuqi; Zhang, Bin; Zhou, Hong; Jiang, Lihua; Yu, Bin

Long, Wei; Lu, Guanting; Zhou, Wenbai; Yang, Yuqi; Zhang, Bin; Zhou, Hong; Jiang, Lihua; Yu, Bin.

Afiliação

Long W; Department of Newborn Screening, Changzhou Maternity and Child Health Care Hospital affiliated to Nanjing Medical University, Changzhou City, 213003, Jiangsu Province, China.
Lu G; Department of Blood Transfusion, Fourth Military Medical University, Xi'an City, 710032, Shanxi Province, China.
Zhou W; Department of Newborn Screening, Changzhou Maternity and Child Health Care Hospital affiliated to Nanjing Medical University, Changzhou City, 213003, Jiangsu Province, China.
Yang Y; Department of Newborn Screening, Changzhou Maternity and Child Health Care Hospital affiliated to Nanjing Medical University, Changzhou City, 213003, Jiangsu Province, China.
Zhang B; Department of Newborn Screening, Changzhou Maternity and Child Health Care Hospital affiliated to Nanjing Medical University, Changzhou City, 213003, Jiangsu Province, China.
Zhou H; Department of Newborn Screening, Changzhou Maternity and Child Health Care Hospital affiliated to Nanjing Medical University, Changzhou City, 213003, Jiangsu Province, China.
Jiang L; Department of Child Health, Changzhou Maternity and Child Health Care Hospital affiliated to Nanjing Medical University, Changzhou City, 213003, Jiangsu Province, China.
Yu B; Department of Newborn Screening, Changzhou Maternity and Child Health Care Hospital affiliated to Nanjing Medical University, Changzhou City, 213003, Jiangsu Province, China.

Endocr J ; 65(10): 1019-1028, 2018 Oct 29.

Article em En | MEDLINE | ID: mdl-30022773

Assuntos

Hipotireoidismo Congênito/genética; Mutação; Adenosina Trifosfatases/genética; Povo Asiático/genética; Autoantígenos/genética; China; Cromograninas/genética; Proteínas de Ligação a DNA/genética; Oxidases Duais/genética; Subunidades alfa Gs de Proteínas de Ligação ao GTP/genética; Sequenciamento de Nucleotídeos em Larga Escala; Proteína Homeobox Nkx-2.5/genética; Humanos; Iodeto Peroxidase/genética; Proteínas de Ligação ao Ferro/genética; Proteínas dos Microfilamentos/genética; Proteínas Musculares/genética; Fator de Transcrição PAX8/genética; Fenótipo; Receptores da Tireotropina/genética; Fatores de Transcrição/genética

Palavras-chave

Congenital hypothyroidism; Gene mutation; Next-generation sequencing; Thyroglobulin; Thyroid oxidase 2

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Hipotireoidismo Congênito / Mutação Idioma: En Ano de publicação: 2018 Tipo de documento: Article

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Hipotireoidismo Congênito / Mutação Idioma: En Ano de publicação: 2018 Tipo de documento: Article