Atypical Mowat-Wilson Syndrome: Dystonia, Choreoathetosis and Cognitive Features.

Movement Disorders Clinical PracticeEarly View LETTERS: GENOTYPE AND PHENOTYPE Atypical Mowat-Wilson Syndrome: Dystonia, Choreoathetosis and Cognitive Features Laia Nou-Fontanet MD, Laia Nou-Fontanet MD orcid.org/0000-0001-7381-3983 Pediatric Neurology Department, Hospital Sant Joan de Déu, Barcelona, SpainSearch for more papers by this authorLaura Martí-Sánchez PhD, Laura Martí-Sánchez PhD orcid.org/0000-0002-5051-3053 Department of Genetic and Molecular Medicine-IPER, Institut de Recerca Sant Joan de Déu, Barcelona, SpainSearch for more papers by this authorLoreto Martorell PhD, Loreto Martorell PhD orcid.org/0000-0003-0898-7332 Department of Genetic and Molecular Medicine-IPER, Institut de Recerca Sant Joan de Déu, Barcelona, SpainSearch for more papers by this authorJesús Casas MD, Jesús Casas MD Pediatric Neurology Department, Hospital Sant Joan de Déu, Barcelona, SpainSearch for more papers by this authorJuan Darío Ortigoza-Escobar MD, PhD, Corresponding Author Juan Darío Ortigoza-Escobar MD, PhD [email protected] orcid.org/0000-0002-6320-2641 U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca Hospital Sant Joan de Déu, Barcelona, Spain European Reference Network for Rare Neurological Diseases (ERN-RND), Barcelona, Spain Correspondence to: Dr. Juan Darío Ortigoza-Escobar, Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Hospital Sant Joan de Déu Barcelona, Passeig Sant Joan de Déu 2, 08950, Barcelona, Spain; E-mail: [email protected]Search for more papers by this author Laia Nou-Fontanet MD, Laia Nou-Fontanet MD orcid.org/0000-0001-7381-3983 Pediatric Neurology Department, Hospital Sant Joan de Déu, Barcelona, SpainSearch for more papers by this authorLaura Martí-Sánchez PhD, Laura Martí-Sánchez PhD orcid.org/0000-0002-5051-3053 Department of Genetic and Molecular Medicine-IPER, Institut de Recerca Sant Joan de Déu, Barcelona, SpainSearch for more papers by this authorLoreto Martorell PhD, Loreto Martorell PhD orcid.org/0000-0003-0898-7332 Department of Genetic and Molecular Medicine-IPER, Institut de Recerca Sant Joan de Déu, Barcelona, SpainSearch for more papers by this authorJesús Casas MD, Jesús Casas MD Pediatric Neurology Department, Hospital Sant Joan de Déu, Barcelona, SpainSearch for more papers by this authorJuan Darío Ortigoza-Escobar MD, PhD, Corresponding Author Juan Darío Ortigoza-Escobar MD, PhD [email protected] orcid.org/0000-0002-6320-2641 U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca Hospital Sant Joan de Déu, Barcelona, Spain European Reference Network for Rare Neurological Diseases (ERN-RND), Barcelona, Spain Correspondence to: Dr. Juan Darío Ortigoza-Escobar, Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Hospital Sant Joan de Déu Barcelona, Passeig Sant Joan de Déu 2, 08950, Barcelona, Spain; E-mail: [email protected]Search for more papers by this author First published: 22 April 2024 https://doi.org/10.1002/mdc3.14050Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat Supporting Information Filename Description mdc314050-sup-0001-Supplementary_Material_Literature_review.docxWord 2007 document , 12.2 KB Data S1. Literature review. mdc314050-sup-0002-TableS1.docxWord 2007 document , 13.9 KB TABLE S1. Comprehensive in silico analysis of variants reported in the literature. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article. References 1Wakamatsu N, Yamada Y, Yamada K, et al. Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease. Nat Genet 2001; 27(4): 369–370. 10.1038/86860 CASPubMedWeb of Science®Google Scholar 2Verstappen G, Van Grunsven LA, Michiels C, Van de Putte T, Souopgui J, Van Damme J, et al. 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