Unique three-site compound heterozygous mutation in the WFS1 gene in Wolfram syndrome.

Ren, Ziyu; Yi, Jixiu; Zhong, Min; Wang, Yunting; Liu, Qicong; Wang, Xuan; Liu, Dongfang; Ren, Wei

Ren, Ziyu; Yi, Jixiu; Zhong, Min; Wang, Yunting; Liu, Qicong; Wang, Xuan; Liu, Dongfang; Ren, Wei.

Afiliação

Ren Z; Department of Endocrinology and Metabolism, The Second Affiliated Hospital of Chongqing Medical University, No. 74, Linjiang Road, Yuzhong District, Chongqing, 400010, China.
Yi J; Department of Endocrinology and Metabolism, The Qianjiang Central Hospital, Chongqing, China.
Zhong M; Department of Neurological Disorders, Chongqing Medical University Affiliated Children's Hospital, Chongqing, China.
Wang Y; Department of Endocrinology and Metabolism, The First Affiliated Hospital of Chongqing Medical University, No. 1, You-Yi Rd, Yu-zhong District, Chongqing, 400010, China.
Liu Q; Department of Endocrinology and Metabolism, The Second Affiliated Hospital of Chongqing Medical University, No. 74, Linjiang Road, Yuzhong District, Chongqing, 400010, China.
Wang X; Department of Endocrinology and Metabolism, The Second Affiliated Hospital of Chongqing Medical University, No. 74, Linjiang Road, Yuzhong District, Chongqing, 400010, China.
Liu D; Department of Endocrinology and Metabolism, The Second Affiliated Hospital of Chongqing Medical University, No. 74, Linjiang Road, Yuzhong District, Chongqing, 400010, China. ldf023023@qq.com.
Ren W; Department of Endocrinology and Metabolism, The First Affiliated Hospital of Chongqing Medical University, No. 1, You-Yi Rd, Yu-zhong District, Chongqing, 400010, China. sawakita0209@163.com.

BMC Endocr Disord ; 21(1): 166, 2021 Aug 17.

Article em En | MEDLINE | ID: mdl-34404380

Assuntos

Proteínas de Membrana/genética; Mutação; Síndrome de Wolfram/genética; Síndrome de Wolfram/patologia; Adolescente; Éxons; Feminino; Homozigoto; Humanos; Masculino; Linhagem; Prognóstico

Palavras-chave

Compound heterozygous mutation; Diabetes mellitus; WFS1; Wolfram syndrome

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Wolfram / Proteínas de Membrana / Mutação Tipo de estudo: Prognostic_studies Limite: Adolescent / Female / Humans / Male Idioma: En Revista: BMC Endocr Disord Ano de publicação: 2021 Tipo de documento: Article País de afiliação: China

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