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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...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2022
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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 |