Advanced search
Publication Cover
Pharmacogenomics and Personalized Medicine Volume 16, 2023 - Issue
Submit an article Journal homepage
164
Views
1
CrossRef citations to date
0
Altmetric
CASE REPORT

A Case Report of Cardiofaciocutaneous Syndrome with MAP2K1 Pathogenic Variant

Qiong TangDepartment of Children Health Care Center, Zhuzhou Hospital Affiliated to Xiangya Medical College, Central South University, Zhuzhou, People’s Republic of ChinaView further author information
,
Dai GongDepartment of Children Health Care Center, Zhuzhou Hospital Affiliated to Xiangya Medical College, Central South University, Zhuzhou, People’s Republic of ChinaView further author information
,
Xiao-Min YeDepartment of Children Health Care Center, Zhuzhou Hospital Affiliated to Xiangya Medical College, Central South University, Zhuzhou, People’s Republic of ChinaView further author information
,
Jun-Ru XuDepartment of Children Health Care Center, Zhuzhou Hospital Affiliated to Xiangya Medical College, Central South University, Zhuzhou, People’s Republic of ChinaView further author information
,
Yi-Can YangDepartment of Children Health Care Center, Zhuzhou Hospital Affiliated to Xiangya Medical College, Central South University, Zhuzhou, People’s Republic of ChinaView further author information
,
Li-Juan YanDepartment of Children Health Care Center, Zhuzhou Hospital Affiliated to Xiangya Medical College, Central South University, Zhuzhou, People’s Republic of ChinaView further author information
,
Li ZouDepartment of Children Health Care Center, Zhuzhou Hospital Affiliated to Xiangya Medical College, Central South University, Zhuzhou, People’s Republic of ChinaView further author information
&
Xiang-Lan WenDepartment of Children Health Care Center, Zhuzhou Hospital Affiliated to Xiangya Medical College, Central South University, Zhuzhou, People’s Republic of ChinaCorrespondence[email protected]
View further author information
 show all
Pages 817-823 | Received 10 Mar 2023, Accepted 21 Aug 2023, Published online: 08 Sep 2023

Figures & data

Figure 1 Severe neurodevelopmental delay observed in the child.

Figure 1 Severe neurodevelopmental delay observed in the child.

Figure 2 Craniofacial features of the child.

Figure 2 Craniofacial features of the child.

Figure 3 Skin of the auricles and the front of the ears observed in the child.

Figure 3 Skin of the auricles and the front of the ears observed in the child.

Figure 4 Inconsistent head circumference, abdominal circumference, height and weight, and abnormal posture observed in the child.

Figure 4 Inconsistent head circumference, abdominal circumference, height and weight, and abnormal posture observed in the child.

Figure 5 The SNV and InDel maps of genes in the child and parents. (A) Child; (B) Father; (C) Mother.

Note: Red arrows represent the change of the base.
Figure 5 The SNV and InDel maps of genes in the child and parents. (A) Child; (B) Father; (C) Mother.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.