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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Detalles Bibliográficos
Autores principales: Kawai, Miki, Kato, Takema, Tsutsumi, Makiko, Shinkai, Yasuko, Inagaki, Hidehito, Kurahashi, Hiroki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7767561/
https://www.ncbi.nlm.nih.gov/pubmed/33085210
http://dx.doi.org/10.1002/mgg3.1531

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7767561/
https://www.ncbi.nlm.nih.gov/pubmed/33085210
http://dx.doi.org/10.1002/mgg3.1531

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