A Case Report of Cardiofaciocutaneous Syndrome with <i>MAP2K1</i> Pathogenic Variant.

Tang, Qiong; Gong, Dai; Ye, Xiao-Min; Xu, Jun-Ru; Yang, Yi-Can; Yan, Li-Juan; Zou, Li; Wen, Xiang-Lan

A Case Report of Cardiofaciocutaneous Syndrome with MAP2K1 Pathogenic Variant.

Tang, Qiong; Gong, Dai; Ye, Xiao-Min; Xu, Jun-Ru; Yang, Yi-Can; Yan, Li-Juan; Zou, Li; Wen, Xiang-Lan.

Afiliación

Tang Q; Department of Children Health Care Center, Zhuzhou Hospital Affiliated to Xiangya Medical College, Central South University, Zhuzhou, People's Republic of China.
Gong D; Department of Children Health Care Center, Zhuzhou Hospital Affiliated to Xiangya Medical College, Central South University, Zhuzhou, People's Republic of China.
Ye XM; Department of Children Health Care Center, Zhuzhou Hospital Affiliated to Xiangya Medical College, Central South University, Zhuzhou, People's Republic of China.
Xu JR; Department of Children Health Care Center, Zhuzhou Hospital Affiliated to Xiangya Medical College, Central South University, Zhuzhou, People's Republic of China.
Yang YC; Department of Children Health Care Center, Zhuzhou Hospital Affiliated to Xiangya Medical College, Central South University, Zhuzhou, People's Republic of China.
Yan LJ; Department of Children Health Care Center, Zhuzhou Hospital Affiliated to Xiangya Medical College, Central South University, Zhuzhou, People's Republic of China.
Zou L; Department of Children Health Care Center, Zhuzhou Hospital Affiliated to Xiangya Medical College, Central South University, Zhuzhou, People's Republic of China.
Wen XL; Department of Children Health Care Center, Zhuzhou Hospital Affiliated to Xiangya Medical College, Central South University, Zhuzhou, People's Republic of China.

Pharmgenomics Pers Med ; 16: 817-823, 2023.

Article en En | MEDLINE | ID: mdl-37705935

Palabras clave

cardiofaciocutaneous syndrome; gene detection; intellectual disability; neurodevelopmental syndrome; short stature; spinocerebellar ataxia

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Pharmgenomics Pers Med Año: 2023 Tipo del documento: Article