Testing criteria for 22q11.2 deletion syndrome: preliminary results of a low cost strategy for public health

BACKGROUND: The clinical heterogeneity of the 22q11.2 Deletion Syndrome (22q11.2DS – OMIM, #188400 and #192430) is a universal challenge leading to diagnostic delay. The aim of this study was to evaluate a low cost strategy for the diagnosis of this condition based upon clinical criteria previously...

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Detalles Bibliográficos
Autores principales: Sgardioli, Ilária Cristina, Paoli Monteiro, Fabíola, Fanti, Paulo, Paiva Vieira, Társis, Gil-da-Silva-Lopes, Vera Lúcia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6547599/
https://www.ncbi.nlm.nih.gov/pubmed/31159889
http://dx.doi.org/10.1186/s13023-019-1098-1

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