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Beckwith-Weidemann syndrome with IC2 (KvDMR1) hypomethylation defect: a novel mutation
The Beckwith-Wiedemann syndrome (BWS) is a rare genetic syndrome. However, this is one of the most common overgrowth syndromes. This is a genetically and clinically heterogeneous syndrome. Here, we report a case of Beckwith-Weidemann syndrome without macrosomia, visceromegaly and hemihyperplasia but...
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| Publicado en: | BMJ Case Rep |
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| Autores principales: | , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
BMJ Publishing Group
2018
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5884267/ https://ncbi.nlm.nih.gov/pubmed/29602885 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2017-222419 |
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