Case Report: A Novel Deletion in the 11p15 Region Causing a Familial Beckwith–Wiedemann Syndrome

Beckwith–Wiedemann syndrome (BWS; OMIM 130650) is a human overgrowth and cancer susceptibility disorder with a wide clinical spectrum, which cannot be predicted based on genomic variants alone. Most reports on BWS cases focus on childhood patients. Studies on adult BWS patients are scarce. Our study...

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Detalles Bibliográficos
Autores principales: Chen, Juan, Xu, Jian, Yu, Yang, Sun, Ling
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7933649/
https://www.ncbi.nlm.nih.gov/pubmed/33679886
http://dx.doi.org/10.3389/fgene.2021.621096

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7933649/
https://www.ncbi.nlm.nih.gov/pubmed/33679886
http://dx.doi.org/10.3389/fgene.2021.621096

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