A novel frameshift variant in the ADA2 gene of a patient with a neurological phenotype: a case report

BACKGROUND: Adenosine deaminase 2 (ADA2) deficiency is an inherited autoinflammatory syndrome caused by a defect in the ADA2 gene. Most common manifestations include peripheral vasculopathy, early-onset stroke, immunodeficiency, and haematological manifestations. Patients with pathogenic variants th...

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Detalles Bibliográficos
Autores principales: Lucane, Z., Davidsone, Z., Micule, I., Auzenbaha, M., Kurjane, N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9759365/
https://www.ncbi.nlm.nih.gov/pubmed/36528591
http://dx.doi.org/10.1186/s12969-022-00781-9

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