A Novel Variant of Adenosine Deaminase 2 Deficiency Presented With Chronic Thrombocytopenia, Anemia, and Early-Onset Stroke

Deficiency of adenosine deaminase 2 (DADA2) is a rare recessive disorder caused by the bi-allelic loss-of-function pathogenic variants in the ADA2 gene (MIM: 607575, also known as CECR1, cat eye syndrome chromosome region, candidate 1). Based on the Human Gene Mutation Database (HGMD(®)), 53 differe...

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Detalles Bibliográficos
Autores principales: Al-Hebshi, Abdulqader, Aljohani, Maher, AlShenaifi, Naif, Aloqbi, Maryam, Turkistani, Waheed, Hakami, Fahad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2021
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8237765/
https://www.ncbi.nlm.nih.gov/pubmed/34221752
http://dx.doi.org/10.7759/cureus.15288

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