Clinical Spectrum and Tumour Risk Analysis in Patients with Beckwith-Wiedemann Syndrome Due to CDKN1C Pathogenic Variants

SIMPLE SUMMARY: Beckwith–Wiedemann syndrome (BWS) is an overgrowth disorder caused by imprinting or genetic alterations at the 11p15.5 locus. BWS is considered a spectrum disorder (BWSp) with an increased neoplasm incidence. CDKN1C variants have been reported in 5–10% of patients, with a higher inci...

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Detalles Bibliográficos
Autores principales: Cardoso, Leila Cabral de Almeida, Parra, Alejandro, Gil, Cristina Ríos, Arias, Pedro, Gallego, Natalia, Romanelli, Valeria, Kantaputra, Piranit Nik, Lima, Leonardo, Llerena Júnior, Juan Clinton, Arberas, Claudia, Guillén-Navarro, Encarna, Nevado, Julián, Tenorio-Castano, Jair, Lapunzina, Pablo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9367242/
https://www.ncbi.nlm.nih.gov/pubmed/35954470
http://dx.doi.org/10.3390/cancers14153807

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9367242/
https://www.ncbi.nlm.nih.gov/pubmed/35954470
http://dx.doi.org/10.3390/cancers14153807

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