Cargando…
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...
| Autores principales: | , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Blackwell Publishing Ltd
2022
|
| Materias: | |
| 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 |