Molecular analysis of low‐level mosaicism of the IKBKG mutation using the X Chromosome Inactivation pattern in Incontinentia Pigmenti

Abstract Background Incontinentia pigmenti (IP) is a rare X‐linked disorder affecting the skin and other ectodermal tissues that is caused by mutation of the IKBKG/NEMO gene. Previous studies have reported that the overall mutation detection rate in IP is ~75%. We hypothesized that a low‐level mosai...

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Bibliographic Details
Main Authors: Miki Kawai, Takema Kato, Makiko Tsutsumi, Yasuko Shinkai, Hidehito Inagaki, Hiroki Kurahashi
Format: Article
Language:English
Published: Wiley 2020-12-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Online Access:https://doi.org/10.1002/mgg3.1531