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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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Bibliografski detalji
Glavni autori: Baple, E., Palmer, R., Hennekam, R.C.M.
Format: Artigo
Jezik:Inglês
Izdano: S. Karger AG 2010
Teme:
Online pristup: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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