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Synchronous bilateral breast cancer in a patient with Nager syndrome

Nager acrofacial dysostosis is a rare craniofacial syndrome characterized by facial anomalies (cleft palate, external ear abnormalities, and micrognathia) and limb defects due to haploinsufficiency of SF3B4 (or SAP49), a protein involved in pre-mRNA splicing. We describe a 31-year-old female patient...

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Détails bibliographiques
Publié dans:Clin Breast Cancer
Auteurs principaux: Denu, Ryan A., Burkard, Mark E.
Format: Artigo
Langue:Inglês
Publié: 2017
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5446269/
https://ncbi.nlm.nih.gov/pubmed/28139434
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.clbc.2016.12.009
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