一个MYSM1基因突变致骨髓衰竭综合征4型家系报道附文献复习

OBJECTIVE: To report the clinical manifestations and total exon detection results of one case of MYSM1 gene complex heterozygosity mutation of bone marrow failure syndrome 4 and the results of total exon detection of her family to provide a case phenotype for the early diagnosis of bone marrow failu...

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Detalles Bibliográficos
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Editorial office of Chinese Journal of Hematology 2021
Materias:
论著
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8071664/
https://www.ncbi.nlm.nih.gov/pubmed/33858043
http://dx.doi.org/10.3760/cma.j.issn.0253-2727.2021.02.007

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8071664/
https://www.ncbi.nlm.nih.gov/pubmed/33858043
http://dx.doi.org/10.3760/cma.j.issn.0253-2727.2021.02.007

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