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Uncovering incontinentia pigmenti: From DNA sequence to pathophysiology

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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Detalles Bibliográficos
Autores principales: How, Kang Nien, Leong, Hazel Jing Yi, Pramono, Zacharias Aloysius Dwi, Leong, Kin Fon, Lai, Zee Wei, Yap, Wei Hsum
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9485571/
https://www.ncbi.nlm.nih.gov/pubmed/36147820
http://dx.doi.org/10.3389/fped.2022.900606