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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...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2018
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| Materias: | |
| 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 |