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

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 clinical sig...

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Detalles Bibliográficos
Autores principales: Silva, Isabela Mayá Wayhs, Gil-da-Silva-Lopes, Vera Lúcia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8862281/
https://www.ncbi.nlm.nih.gov/pubmed/35189940
http://dx.doi.org/10.1186/s13023-022-02225-9