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Evidence for anticipation in Beckwith–Wiedemann syndrome
Classical Beckwith–Wiedemann syndrome (BWS) was diagnosed in two sisters and their male cousin. The children's mothers and a third sister were tall statured (178, 185 and 187 cm) and one had mild BWS features as a child. Their parents had average heights of 173 cm (mother) and 180 cm (father)....
Autores principales: | Berland, Siren, Appelbäck, Mia, Bruland, Ove, Beygo, Jasmin, Buiting, Karin, Mackay, Deborah J G, Karen Temple, I, Houge, Gunnar |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3831082/ https://www.ncbi.nlm.nih.gov/pubmed/23572028 http://dx.doi.org/10.1038/ejhg.2013.71 |
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