A new CECR1 mutation associated with severe hematological involvement in ADA2 deficiency

BACKGROUND: The deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessively inherited disease resulting from loss‐of‐function mutations in ADA2, formerly named CECR1 (cat eye syndrome chromosome region, candidate 1) gene. Disease manifestations could be separated into three major phenoty...

Descripción completa

Detalles Bibliográficos
Autores principales: Nicoară, Delia, Niță, Cristina, Stanilă, Ana, Martiniuc, Alexandru, Popa, Laura, Petrescu, Eliana, Bătăneant, Mihaela, Ciofu, Ruxandra, Guriță, Adriana, Tabăcaru, Radu, Ionescu, Ruxandra, Groșeanu, Laura
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Short Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10443069/
https://www.ncbi.nlm.nih.gov/pubmed/37647436
http://dx.doi.org/10.1002/iid3.930

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10443069/
https://www.ncbi.nlm.nih.gov/pubmed/37647436
http://dx.doi.org/10.1002/iid3.930

Ejemplares similares