Case Report: Novel Biallelic Variants in DNAJC21 Causing an Inherited Bone Marrow Failure Spectrum Phenotype: An Odyssey to Diagnosis

Bone marrow failure represents an umbrella diagnosis for several life-threatening disorders. In many people, the etiology remains unknown for a long time, leading to an odyssey to diagnosis, with numerous tests performed and sometimes inappropriate treatment. Biallelic pathogenic variants in the DNA...

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Detalles Bibliográficos
Autores principales: Chirita-Emandi, Adela, Petrescu, Carmen-Angela-Maria, Zimbru, Cristian G., Stoica, Florina, Marian, Catalin, Ciubotaru, Andreea, Bataneant, Mihaela, Puiu, Maria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9023866/
https://www.ncbi.nlm.nih.gov/pubmed/35464845
http://dx.doi.org/10.3389/fgene.2022.870233

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9023866/
https://www.ncbi.nlm.nih.gov/pubmed/35464845
http://dx.doi.org/10.3389/fgene.2022.870233

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