A novel CHD7 variant in a chinese family with CHARGE syndrome.

Shan, Yanhong; Yao, LingFang; Li, Linli; Gao, Xueping; Jiang, Jinghan

Shan, Yanhong; Yao, LingFang; Li, Linli; Gao, Xueping; Jiang, Jinghan.

Shan Y; Department of Obstetrics, the First Hospital of Jilin University, Changchun, Jilin, 130061, China.
Yao L; Department of Obstetrics, Huangshi love and health hospital, Huangshi, Hubei, 435002, China. 18972796718@163.com.
Li L; Department of Obstetrics, the First Hospital of Jilin University, Changchun, Jilin, 130061, China.
Gao X; Yinfeng Gene Technology Co., Ltd, Jinan, Shandong, 250000, China.
Jiang J; Yinfeng Gene Technology Co., Ltd, Jinan, Shandong, 250000, China.

Genes Genomics ; 46(3): 379-387, 2024 Mar.

Article en En | MEDLINE | ID: mdl-37273125

Asunto(s)

Síndrome CHARGE; Embarazo; Femenino; Humanos; Recién Nacido; Síndrome CHARGE/genética; Síndrome CHARGE/diagnóstico; Proteínas de Unión al ADN/genética; ADN Helicasas/genética; Mutación; China

Palabras clave

CHARGE syndrome; CHD7; Heart abnormality; Left foot varus

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Síndrome CHARGE Tipo de estudio: Guideline / Prognostic_studies Límite: Female / Humans / Newborn / Pregnancy País como asunto: Asia Idioma: En Año: 2024 Tipo del documento: Article

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