Uncovering incontinentia pigmenti: From DNA sequence to pathophysiology

• Main Authors: Kang, Nien How, Jing, Hazel Yi Leong, Dwi Pramono, Zacharias Aloysius, Kin, Fon Leong, Zee, Wei Lai, Wei, Hsum Yap
• Format: Article
• Published: Frontiers Research Foundation 2022
• Online Access: http://psasir.upm.edu.my/id/eprint/102528/; https://www.frontiersin.org/articles/10.3389/fped.2022.900606/full
• Institution: Universiti Putra Malaysia

Incontinentia pigmenti (IP) is an X-linked dominant genodermatosis. The disease is known to be caused by recurrent deletion of exons 4–10 of the Inhibitor Of Nuclear Factor Kappa B Kinase Regulatory Subunit Gamma (IKBKG) gene located at the Xq28 chromosomal region, which encodes for NEMO/IKKgamma, a...