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

Autor: Therese van Amelsvoort, Michiel L. Houben, Emy S. van der Valk Bouman, Erik Boot, Myrthe A. Nuijts, Emma N. M. M. von Scheibler, Pit Vermeltfoort, Tos T. J. M. Berendschot, Levinus A. Bok, Agnies M. van Eeghen, Noël J.C. Bauer, Michelle B. van Egmond-Ebbeling

Publikováno v: American Journal of Medical Genetics, Part A, 188(2), 569-578. Wiley-Liss Inc.
von Scheibler, E N M M, van der Valk Bouman, E S, Nuijts, M A, Bauer, N J C, Berendschot, T T J M, Vermeltfoort, P, Bok, L A, van Eeghen, A M, Houben, M L, van Amelsvoort, T A M J, Boot, E & van Egmond-Ebbeling, M B 2022, ' Ocular findings in 22q11.2 deletion syndrome : A systematic literature review and results of a Dutch multicenter study ', American Journal of Medical Genetics, Part A, vol. 188, no. 2, pp. 569-578 . https://doi.org/10.1002/ajmg.a.62556

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 neurop

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https://doi.org/10.1002/ajmg.a.62556