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De novo 2p16.1 microdeletion with metastatic esophageal adenocarcinoma
Microdeletions involving chromosome 2p15-16.1 are a rare genetic abnormality and have been reported in 18 separate patients, mainly children, since 2007. This microdeletion syndrome is characterised by a heterogeneous expression of intellectual impairment, dysmorphic facies, musculoskeletal abnormal...
Guardat en:
| Publicat a: | BMJ Case Rep |
|---|---|
| Autors principals: | , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BMJ Publishing Group
2017
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5256579/ https://ncbi.nlm.nih.gov/pubmed/28108439 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2016-218016 |
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