Incontinentia pigmenti inherited from a father with a low level atypical IKBKG deletion mosaicism: a case report

BACKGROUND: Incontinentia pigmenti (IP) is an X-liked dominant genodermatosis caused by mutations of the IKBKG/NEMO gene. IP is mostly lethal in males in utero, and only very rare male cases with a somatic mosaic mutation or a 47,XXY karyotype have been reported. CASE PRESENTATION: We here report a...

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Detalles Bibliográficos
Autores principales: Kawai, Miki, Sugimoto, Atsuya, Ishihara, Yasunori, Kato, Takema, Kurahashi, Hiroki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9241235/
https://www.ncbi.nlm.nih.gov/pubmed/35768795
http://dx.doi.org/10.1186/s12887-022-03444-6

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