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A Microdeletion at 12q24.31 Can Mimic Beckwith-Wiedemann Syndrome Neonatally
We report on a patient who was initially suspected to have Beckwith-Wiedemann syndrome because of recurrent neonatal hypoglycaemias, macroglossia and overgrowth, but in whom no 11p15 abnormality could be found. Follow-up showed continued overgrowth and disturbed glucose homeostasis, a marked develop...
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| Auteurs principaux: | , , |
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| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
S. Karger AG
2010
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2883851/ https://ncbi.nlm.nih.gov/pubmed/20648245 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000275671 |
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