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

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 mosaicism exi...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Kawai, Miki, Kato, Takema, Tsutsumi, Makiko, Shinkai, Yasuko, Inagaki, Hidehito, Kurahashi, Hiroki
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2020
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7767561/
https://ncbi.nlm.nih.gov/pubmed/33085210
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1531
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