A Case Report of Cardiofaciocutaneous Syndrome with MAP2K1 Pathogenic Variant

A Case Report of Cardiofaciocutaneous Syndrome with MAP2K1 Pathogenic Variant

Qiong Tang, Dai Gong, Xiao-Min Ye, Jun-Ru Xu, Yi-Can Yang, Li-Juan Yan, Li Zou, Xiang-Lan Wen Department of Children Health Care Center, Zhuzhou Hospital Affiliated to Xiangya Medical College, Central South University, Zhuzhou, People’s Republic of ChinaCorrespondence: Xiang-Lan Wen, Department of C...

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Bibliographic Details
Main Authors: Tang Q, Gong D, Ye XM, Xu JR, Yang YC, Yan LJ, Zou L, Wen XL
Format: Article
Language:English
Published: Dove Medical Press 2023-09-01
Series:Pharmacogenomics and Personalized Medicine
Subjects:
cardiofaciocutaneous syndrome
gene detection
intellectual disability
neurodevelopmental syndrome
short stature
spinocerebellar ataxia
Online Access:https://www.dovepress.com/a-case-report-of-cardiofaciocutaneous-syndrome-with-map2k1-pathogenic--peer-reviewed-fulltext-article-PGPM

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https://www.dovepress.com/a-case-report-of-cardiofaciocutaneous-syndrome-with-map2k1-pathogenic--peer-reviewed-fulltext-article-PGPM

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