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Article

Investigation of a pervasive immune, cardiac, and behavioral phenotype in Beckwith-Wiedemann syndrome: A case report.

American journal of medical genetics. Part A - 1 Apr 2023

McElroy Timothy D, Duffy Kelly A, Hathaway Evan R, Byrne Mallory E, Kalish Jennifer M

Abstract excerpt

Beckwith-Wiedemann syndrome (BWS) is an imprinting disorder caused by genetic and epigenetic changes in the chromosome 11p15 region. The syndrome is characterized by a wide range of features including macrosomia, lateralized overgrowth, abdominal wall defects, and hypoglycemia. BWS presentation is variable across the entire patient population, but certain areas including immunology, cardiology, and behavioral...

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Identifiers

PMID: 36595472
DOI: 10.1002/ajmg.a.63114

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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