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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...

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Dades bibliogràfiques
Publicat a:BMJ Case Rep
Autors principals: Codipilly, Don Chamil, Gavrilova, Ralitza H, Tangalos, Eric G
Format: Artigo
Idioma:Inglês
Publicat: BMJ Publishing Group 2017
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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