ERCC6L2‐associated inherited bone marrow failure syndrome

BACKGROUND: ERCC6L2‐associated disorder has recently been described and only five patients were reported so far. The described phenotype included bone marrow, cerebral, and craniofacial abnormalities. The aim of this study was to further define the genetic and phenotypic spectrum of the disorder by...

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Detalles Bibliográficos
Autores principales: Shabanova, Iren, Cohen, Elisa, Cada, Michaela, Vincent, Ajoy, Cohn, Ronald D., Dror, Yigal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6014454/
https://www.ncbi.nlm.nih.gov/pubmed/29633571
http://dx.doi.org/10.1002/mgg3.388

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6014454/
https://www.ncbi.nlm.nih.gov/pubmed/29633571
http://dx.doi.org/10.1002/mgg3.388

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