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Diagnosis and Management of Beckwith-Wiedemann Syndrome

Beckwith-Wiedemann syndrome (BWS) is a human genomic imprinting disorder that presents with a wide spectrum of clinical features including overgrowth, abdominal wall defects, macroglossia, neonatal hypoglycemia, and predisposition to embryonal tumors. It is associated with genetic and epigenetic cha...

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Podrobná bibliografie
Vydáno v:Front Pediatr
Hlavní autoři: Wang, Kathleen H., Kupa, Jonida, Duffy, Kelly A., Kalish, Jennifer M.
Médium: Artigo
Jazyk:Inglês
Vydáno: Frontiers Media S.A. 2020
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6990127/
https://ncbi.nlm.nih.gov/pubmed/32039119
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fped.2019.00562
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