Six Mutations in AAGAB Confirm Its Pathogenic Role in Chinese Punctate Palmoplantar Keratoderma Patients  Hongzhou Cui, Min Gao, Wenjun Wang, Ruo Xiao, Gang Chen, Qing Zhang, Hongyang Fu, Yi Zhou, Birong Guo, Ying Dong, Jie Shen, Min Zhang, Zhen Yue, Fengxia Liu, Da Lin, Tianwen Gao, Anping Zhang, Wenming Zhou, Liangdan Sun, Sen Yang, Jun Wang, Yong Cui, Xuejun Zhang  Journal of Investigative Dermatology  Volume 133, Issue 11, Pages 2631-2634 (November 2013) DOI: 10.1038/jid.2013.198 Copyright © 2013 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 Clinical features of the proband and the mutation in AAGAB identified in Family 22. (a, b) The punctate keratoses on palms and soles of the proband. (c, d) The frameshift mutation c.552_554TAG>AT (black arrow) identified in exon 6 of AAGAB. Journal of Investigative Dermatology 2013 133, 2631-2634DOI: (10.1038/jid.2013.198) Copyright © 2013 The Society for Investigative Dermatology, Inc Terms and Conditions