Christianson syndrome: A novel splicing variant of SLC9A6 causes exon skipping in a Chinese boy and a literature review.

Zhang, Xiaoge; Wu, Xiaofang; Liu, Hongli; Song, Tingting; Jiang, Yongsheng; He, Hanhan; Yang, Shaoqing; Xie, Yun

Zhang, Xiaoge; Wu, Xiaofang; Liu, Hongli; Song, Tingting; Jiang, Yongsheng; He, Hanhan; Yang, Shaoqing; Xie, Yun.

Afiliação

Zhang X; Department of pediatrics, Northwest Women's and Children's Hospital, Xi'an, China.
Wu X; Department of pediatrics, Northwest Women's and Children's Hospital, Xi'an, China.
Liu H; Department of pediatrics, Northwest Women's and Children's Hospital, Xi'an, China.
Song T; Department of pediatrics, Northwest Women's and Children's Hospital, Xi'an, China.
Jiang Y; Department of pediatrics, Northwest Women's and Children's Hospital, Xi'an, China.
He H; Department of pediatrics, Northwest Women's and Children's Hospital, Xi'an, China.
Yang S; State Key Laboratory of Military Stomatology, Department of Oral Biology, School of Stomatology, Clinic of Oral Rare and Genetic Diseases, National Clinical Research Center for Oral Diseases, The Fourth Military Medical University, Xi'an, China.
Xie Y; Department of clinical laboratory, Northwest Women's and Children's Hospital, Xi'an, China.

J Clin Lab Anal ; 36(1): e24123, 2022 Jan.

Article em En | MEDLINE | ID: mdl-34791706

Assuntos

Ataxia/genética; Epilepsia/genética; Doenças Genéticas Ligadas ao Cromossomo X/genética; Deficiência Intelectual/genética; Microcefalia/genética; Transtornos da Motilidade Ocular/genética; Trocadores de Sódio-Hidrogênio/genética; Pré-Escolar; China; Humanos; Masculino; Isoformas de Proteínas/genética; Sequenciamento do Exoma

Palavras-chave

SLC9A6; chinese boy; christianson syndrome; novel splicing variant

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ataxia / Transtornos da Motilidade Ocular / Trocadores de Sódio-Hidrogênio / Doenças Genéticas Ligadas ao Cromossomo X / Epilepsia / Deficiência Intelectual / Microcefalia Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Child, preschool / Humans / Male País/Região como assunto: Asia Idioma: En Revista: J Clin Lab Anal Assunto da revista: TECNICAS E PROCEDIMENTOS DE LABORATORIO Ano de publicação: 2022 Tipo de documento: Article País de afiliação: China

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