Diagnosis and management of the phenotypic spectrum of twins with Beckwith-Wiedemann syndrome

Beckwith-Wiedemann syndrome (BWS) is an overgrowth disorder with a heterogeneous phenotypic spectrum. There is an increased prevalence of monozygotic twinning in BWS. Given the epigenetic nature and phenotypic spectrum that defines BWS, twins are often discordant for clinical features, and clinician...

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Опубликовано в: :Am J Med Genet A
Главные авторы: Cohen, Jennifer L., Duffy, Kelly A., Sajorda, Brian J., Hathaway, Evan R., Gonzalez-Gandolfi, Christina X., Richards-Yutz, Jennifer, Gunter, Andrew T., Ganguly, Arupa, Kaplan, Julie, Deardorff, Matthew A., Kalish, Jennifer M.
Формат: Artigo
Язык:Inglês
Опубликовано: 2019
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Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC7959854/
https://ncbi.nlm.nih.gov/pubmed/31067005
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.61164
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