Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome

Author:

Óskarsdóttir Sólveig,Boot ErikORCID,Crowley Terrence Blaine,Loo Joanne C.Y.,Arganbright Jill M.,Armando Marco,Baylis Adriane L.,Breetvelt Elemi J.,Castelein René M.,Chadehumbe Madeline,Cielo Christopher M.,de Reuver Steven,Eliez Stephan,Fiksinski Ania M.,Forbes Brian J.,Gallagher Emily,Hopkins Sarah E.,Jackson Oksana A.,Levitz-Katz Lorraine,Klingberg Gunilla,Lambert Michele P.,Marino Bruno,Mascarenhas Maria R.,Moldenhauer Julie,Moss Edward M.,Nowakowska Beata Anna,Orchanian-Cheff Ani,Putotto Carolina,Repetto Gabriela M.,Schindewolf Erica,Schneider Maude,Solot Cynthia B.,Sullivan Kathleen E.,Swillen Ann,Unolt Marta,Van Batavia Jason P.,Vingerhoets Claudia,Vorstman Jacob,Bassett Anne S.ORCID,McDonald-McGinn Donna M.ORCID

Funder

University of Toronto

Publisher

Elsevier BV

Subject

Genetics (clinical)

Reference265 articles.

1. 22q11.2 deletion syndrome;McDonald-McGinn;Nat Rev Dis Primers,2015

2. 22q11.2 deletion – a tiny piece leading to a big picture;McDonald-McGinn;Nat Rev Dis Primers,2020

3. Estimate of the contemporary live-birth prevalence of recurrent 22q11.2 deletions: a cross-sectional analysis from population-based newborn screening;Blagojevic;CMAJ Open,2021

4. Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies;Grati;Prenat Diagn,2015

5. Chapter 1 - 22q11.2 deletion syndrome: setting the stage;McDonald-McGinn,2022

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