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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2021
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| Materias: | |
| 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 |