An overview of the trajectory of Brazilian individuals with 22q11.2 deletion syndrome until diagnosis

Abstract Background 22q11.2 deletion syndrome (22q11.2DS) is a rare disease with an important characteristic—clinical heterogeneity. The diversity of organs, regions, and systems of the body that can be affected requires periodic updating of health professionals so that they can recognize these clin...

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Bibliographic Details

Published in:	Orphanet Journal of Rare Diseases
Main Authors:	Isabela Mayá Wayhs Silva, Vera Lúcia Gil-da-Silva-Lopes
Format:	Article
Language:	English
Published:	BMC 2022-02-01
Subjects:	22q11.2 Deletion syndrome DiGeorge syndrome Access to health care Clinical management Healthcare utilization Multidisciplinary care age of diagnosis
Online Access:	https://doi.org/10.1186/s13023-022-02225-9