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Early Onset Nonprogressive Generalized Dystonia Is Caused by Biallelic SHQ1 Variants.
Mov Disord. 2023 Jun;38(6):1118-1119. doi: 10.1002/mds.29435.
Mov Disord. 2023.
PMID: 37475611
No abstract available.
Coexistence of junctional epidermolysis bullosa, autosomal recessive deafness type 57, and Angelman syndrome: A case report.
Amato ME, Ricart S, Vicente MA, Martorell L, Armstrong J, Fernández Isern G, Mascaro JM, Balsells S, Alonso I, Serrano M, Ortigoza-Escobar JD.
Amato ME, et al. Among authors: fernandez isern g.
Clin Case Rep. 2023 Apr 24;11(4):e7275. doi: 10.1002/ccr3.7275. eCollection 2023 Apr.
Clin Case Rep. 2023.
PMID: 37113642
Free PMC article.
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The diagnosis of the first-documented intragenic KANSL1 microduplication patient broadens the genetic spectrum of Koolen de Vries syndrome.
Martorell L, Yubero D, Capdevila EC, Fernández Isern G, Salinas D, Mari Vico R, Rebollo M, Muchart J, Armstrong J, Ortigoza-Escobar JD.
Martorell L, et al. Among authors: fernandez isern g.
Clin Genet. 2022 May;101(5-6):575-576. doi: 10.1111/cge.14124. Epub 2022 Feb 22.
Clin Genet. 2022.
PMID: 35191016
No abstract available.
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