Analysis of large phenotypic variability of EEC and SHFM4 syndromes caused by K193E mutation of the TP63 gene

Authors

Jianhua Wei, Fourth Military Medical University (China)
Yang Xue, Fourth Military Medical University (China)
Lian Wu, Fourth Military Medical University (China)
Jie Ma, Fourth Military Medical University (China)
Xiuli Yi, Fourth Military Medical University (China)
Junrui Zhang, Fourth Military Medical University (China)
Bin Lu, Fourth Military Medical University (China)
Chunying Li, Fourth Military Medical University (China)
Dashuang Shi, George Washington University
Songtao Shi, University of Southern California
Xinghua Feng, Fourth Military Medical University (China)
Tao Cai, Fourth Military Medical University (China)

Document Type

Journal Article

Publication Date

5-4-2012

Journal

PLoS ONE

Volume

Volume 7, Issue 5

Inclusive Pages

Article number e35337

Keywords

Cleft Lip--genetics; Cleft Palate--genetics; Ectodermal Dysplasia--genetics; Genetic Diseases; X-Linked--genetics; Limb Deformities; Congenital--genetics; Mutation; Phenotype; Transcription Factors--genetics; Tumor Suppressor Proteins--genetics

Comments

Reproduced with permission ofPLoS ONE

Creative Commons License

This work is licensed under a Creative Commons Attribution 3.0 License.

APA Citation

Wei, J., Xue Y., Wu, L., Ma, J., Yi, X. et al. (2012). Analysis of large phenotypic variability of EEC and SHFM4 syndromes caused by K193E mutation of the TP63 gene. PLoS ONE, 7(5): e35337.

Peer Reviewed

1

Open Access

1