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Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)-Report of two cases and literature review.
Biela M, Rydzanicz M, Szymanska K, Pieniawska-Smiech K, Lewandowicz-Uszynska A, Chruszcz J, Benben L, Kuzior-Plawiak M, Szyld P, Jakubiak A, Szenborn L, Ploski R, Smigiel R. Biela M, et al. Among authors: szyld p. Mol Genet Genomic Med. 2021 Sep;9(9):e1772. doi: 10.1002/mgg3.1772. Epub 2021 Aug 2. Mol Genet Genomic Med. 2021. PMID: 34342181 Free PMC article. Review.
Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the ANKRD11 Gene or Submicroscopic Chromosomal Rearrangements of 16q24.3.
Kutkowska-Kaźmierczak A, Boczar M, Kalka E, Castañeda J, Klapecki J, Pietrzyk A, Barczyk A, Malinowska O, Landowska A, Gambin T, Kowalczyk K, Wiśniowiecka-Kowalnik B, Smyk M, Dawidziuk M, Niepokój K, Paczkowska M, Szyld P, Lipska-Ziętkiewicz B, Szczałuba K, Kostyk E, Runge A, Rutkowska K, Płoski R, Nowakowska B, Bal J, Obersztyn E, Gos M. Kutkowska-Kaźmierczak A, et al. Among authors: szyld p. Genes (Basel). 2021 Aug 17;12(8):1257. doi: 10.3390/genes12081257. Genes (Basel). 2021. PMID: 34440431 Free PMC article.