A Novel Germline Mutation of ADA2 Gene in Two “Discordant” Homozygous Female Twins Affected by Adenosine Deaminase 2 Deficiency: Description of the Bone-Related Phenotype

Adenosine Deaminase 2 Deficiency (DADA2) syndrome is a rare monogenic disorder prevalently linked to recessive inherited loss of function mutations in the ADA2/CECR1 gene. It consists of an immune systemic disease including autoinflammatory vasculopathies, with a frequent onset at infancy/early chil...

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Detalles Bibliográficos
Autores principales: Vai, Silvia, Marin, Erika, Cosso, Roberta, Saettini, Francesco, Bonanomi, Sonia, Cattoni, Alessandro, Chiodini, Iacopo, Persani, Luca, Falchetti, Alberto
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8348276/
https://www.ncbi.nlm.nih.gov/pubmed/34361096
http://dx.doi.org/10.3390/ijms22158331

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