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...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Am J Med Genet A
Hauptverfasser: 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.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2019
Schlagworte:
Article
Online Zugang: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
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge