@article{a04ebca3ec804ea68d3ce86b6dbd1857,
title = "Diagnosis and management of the phenotypic spectrum of twins with Beckwith-Wiedemann syndrome.",
author = "Cohen, \{Jennifer L.\} and Cohen, \{Jennifer L.\} and Duffy, \{Kelly A.\} and Sajorda, \{Brian J.\} and Hathaway, \{Evan R.\} and Gonzalez‐Gandolfi, \{Christina X.\} and Jennifer Richards‐Yutz and Gunter, \{Andrew T.\} and Arupa Ganguly and Julie Kaplan and Julie Kaplan and Deardorff, \{Matthew A.\} and Deardorff, \{Matthew A.\} and Kalish, \{Jennifer M.\} and Kalish, \{Jennifer M.\}",
note = "Beckwith-Wiedemann syndrome (BWS) is a multisystemic disorder that causes an overgrowth phenotype and can lead to embryonal tumors. BWS is diagnosed based on physical exam findings, organ differences, and pathologic features. Molecular testing can support the diagnosis of BWS, but in up to 20\% of patients a molecular defect is not found, leading to reliance on clinical diagnosis ( Brioude et al., 2018; Choufani, Shuman, \& Weksberg, 2010).",
year = "2019",
month = jul,
day = "1",
doi = "10.1002/AJMG.A.61164",
language = "American English",
volume = "179",
journal = "American Journal of Medical Genetics Part A",
number = "7",
}