Case Report: Refractory Cytopenia With a Switch From a Transient Monosomy 7 to a Disease-Ameliorating del(20q) in a NHEJ1-Deficient Long-term Survivor

We report the case of a male Pakistani patient with a pathogenic homozygous loss of function variant in the non-homologous end-joining factor 1 (NHEJ1) gene. The growth retarded and microcephalic boy with clinodactyly of both hands and hyperpigmentation of the skin suffered from recurrent respirator...

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Detalles Bibliográficos
Autores principales: Poyer, Fiona, Jimenez Heredia, Raúl, Novak, Wolfgang, Zeitlhofer, Petra, Nebral, Karin, Dworzak, Michael N., Haas, Oskar A., Boztug, Kaan, Kager, Leo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9263211/
https://www.ncbi.nlm.nih.gov/pubmed/35812385
http://dx.doi.org/10.3389/fimmu.2022.869047

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