Uncovering incontinentia pigmenti: From DNA sequence to pathophysiology

Uncovering incontinentia pigmenti: From DNA sequence to pathophysiology

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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...

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Bibliographic Details
Main Authors: Kang Nien How, Hazel Jing Yi Leong, Zacharias Aloysius Dwi Pramono, Kin Fon Leong, Zee Wei Lai, Wei Hsum Yap
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-09-01
Series:Frontiers in Pediatrics
Subjects:
incontinentia pigmenti
IKBKG/NEMO
NFκB pathway
pathophysiology
molecular diagnosis
genotype-phenotype
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2022.900606/full

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https://www.frontiersin.org/articles/10.3389/fped.2022.900606/full

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