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Confirmation of Ogden syndrome as an X-linked recessive fatal disorder due to a recurrent NAA10 variant and review of the literature.
Gogoll L, Steindl K, Joset P, Zweier M, Baumer A, Gerth-Kahlert C, Tutschek B, Rauch A. Gogoll L, et al. Am J Med Genet A. 2021 Aug;185(8):2546-2560. doi: 10.1002/ajmg.a.62351. Epub 2021 Jun 1. Am J Med Genet A. 2021. PMID: 34075687 Free PMC article. Review.
Here, we report the ninth case of Ogden syndrome with an independent recurrence of the Ser37Pro variant. We were able to follow the clinical course of the affected boy and delineate the evolving phenotype from his birth until his unfortunate death at 7 months. ...
Here, we report the ninth case of Ogden syndrome with an independent recurrence of the Ser37Pro variant. We were able to follow the clinical …
De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females.
Popp B, Støve SI, Endele S, Myklebust LM, Hoyer J, Sticht H, Azzarello-Burri S, Rauch A, Arnesen T, Reis A. Popp B, et al. Eur J Hum Genet. 2015 May;23(5):602-9. doi: 10.1038/ejhg.2014.150. Epub 2014 Aug 6. Eur J Hum Genet. 2015. PMID: 25099252 Free PMC article.
We now identified de novo missense variants in NAA10 in two unrelated individuals, a boy and a girl, with severe global developmental delay but without any major dysmorphism by trio whole-exome sequencing. Both de novo variants were predicted to be deleterious, and we excl …
We now identified de novo missense variants in NAA10 in two unrelated individuals, a boy and a girl, with severe global developmental delay …