Poikiloderma with neutropenia: An alternate presentation with dyspigmentation and novel USB1 mutation

Two siblings presented with sun sensitivity and progressive dyspigmentation. A diagnosis of xeroderma pigmentosum was initially favored due to XPC mutations, although variants were not clearly diagnostic. However, new moderate neutropenia and homozygous suspected pathogenic variants in USB1 led to d...

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Detalles Bibliográficos
Autores principales: Peterson, Malina Yamashita, Hanson, Brooke, Polcari, Ingrid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9543344/
https://www.ncbi.nlm.nih.gov/pubmed/35522049
http://dx.doi.org/10.1111/pde.15007

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9543344/
https://www.ncbi.nlm.nih.gov/pubmed/35522049
http://dx.doi.org/10.1111/pde.15007

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