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Severe intellectual disability, absence of language, epilepsy, microcephaly and progressive cerebellar atrophy related to the recurrent de novo variant p.(P139L) of the CAMK2B gene: A case report and brief review.
Rizzi S, Spagnoli C, Salerno GG, Frattini D, Caraffi SG, Trimarchi G, Moratti C, Pascarella R, Garavelli L, Fusco C. Rizzi S, et al. Among authors: frattini d. Am J Med Genet A. 2020 Nov;182(11):2675-2679. doi: 10.1002/ajmg.a.61803. Epub 2020 Sep 1. Am J Med Genet A. 2020. PMID: 32875707
Infantile-Onset Charcot-Marie-Tooth Disease With Pyramidal Features and White Matter Abnormalities Due to a De novo MORC2 Gene Variant: A Case Report and Brief Review of the Literature.
Frongia I, Rizzi S, Baga M, Ceteroni LM, Spagnoli C, Salerno GG, Frattini D, Kaare M, Pisani F, Fusco C. Frongia I, et al. Among authors: frattini d. Front Neurol. 2021 Sep 22;12:718808. doi: 10.3389/fneur.2021.718808. eCollection 2021. Front Neurol. 2021. PMID: 34630290 Free PMC article.
101 results