Ontology highlight
ABSTRACT:
SUBMITTER: Duffy KA
PROVIDER: S-EPMC6454922 | biostudies-literature | 2019 Apr
REPOSITORIES: biostudies-literature
Duffy Kelly A KA Sajorda Brian J BJ Yu Alice C AC Hathaway Evan R ER Grand Katheryn L KL Deardorff Matthew A MA Kalish Jennifer M JM
American journal of medical genetics. Part A 20190204 4
Beckwith-Wiedemann syndrome (BWS) is the most common epigenetic overgrowth disorder and presents with patients affected by a variety of clinical features. Although genotype-phenotype correlations have been demonstrated in BWS and although BWS has been reported to occur equally among racial and ethnic backgrounds, no study to date has evaluated the frequency of findings in different backgrounds. In this study, we evaluated the incidence of clinical features and molecular diagnoses among patients ...[more]