A reassessment of Jackson’s checklist and identification of two Down syndrome sub-phenotypes

Down syndrome (DS) is characterised by several clinical features including intellectual disability (ID) and craniofacial dysmorphisms. In 1976, Jackson and coll. identified a checklist of signs for clinical diagnosis of DS; the utility of these checklists in improving the accuracy of clinical diagno...

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Detalles Bibliográficos
Autores principales: Locatelli, Chiara, Onnivello, Sara, Gori, Caterina, Ramacieri, Giuseppe, Pulina, Francesca, Marcolin, Chiara, Vianello, Renzo, Vione, Beatrice, Caracausi, Maria, Pelleri, Maria Chiara, Vitale, Lorenza, Pirazzoli, Gian Luca, Cocchi, Guido, Corvaglia, Luigi, Strippoli, Pierluigi, Antonaros, Francesca, Piovesan, Allison, Lanfranchi, Silvia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8873406/
https://www.ncbi.nlm.nih.gov/pubmed/35210468
http://dx.doi.org/10.1038/s41598-022-06984-0

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