Ocular findings in 22q11.2 deletion syndrome: A systematic literature review and results of a Dutch multicenter study

The 22q11.2 deletion syndrome (22q11.2DS) is a multisystem disorder with an estimated prevalence of 1:3000 live births. Manifestations show a marked variability in expression and include speech‐ and language delay, intellectual disability, and neuropsychiatric disorders. We aim to provide an overvie...

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Detalles Bibliográficos
Autores principales: von Scheibler, Emma N. M. M., van der Valk Bouman, Emy S., Nuijts, Myrthe A., Bauer, Noël J. C., Berendschot, Tos T. J. M., Vermeltfoort, Pit, Bok, Levinus A., van Eeghen, Agnies M., Houben, Michiel L., van Amelsvoort, Thérèse A. M. J., Boot, Erik, van Egmond‐Ebbeling, Michelle B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9298823/
https://www.ncbi.nlm.nih.gov/pubmed/34773366
http://dx.doi.org/10.1002/ajmg.a.62556

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9298823/
https://www.ncbi.nlm.nih.gov/pubmed/34773366
http://dx.doi.org/10.1002/ajmg.a.62556

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