Characterization of the Beckwith-Wiedemann spectrum: Diagnosis and management

Beckwith-Wiedemann syndrome (BWS) is the most common epigenetic overgrowth and cancer predisposition disorder. Due to both varying molecular defects involving chromosome 11p15 and tissue mosaicism, patients can present with a variety of clinical features, leading to the newly defined Beckwith-Wiedem...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Am J Med Genet C Semin Med Genet
Prif Awduron: Duffy, Kelly A., Cielo, Christopher M., Cohen, Jennifer L., Gonzalez-Gandolfi, Christina X., Griff, Jessica R., Hathaway, Evan R., Kupa, Jonida, Taylor, Jesse A., Wang, Kathleen H., Ganguly, Arupa, Deardorff, Matthew A., Kalish, Jennifer M.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2019
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC7959855/
https://ncbi.nlm.nih.gov/pubmed/31469230
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.c.31740
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