{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,15]],"date-time":"2026-07-15T16:18:07Z","timestamp":1784132287158,"version":"3.55.0"},"reference-count":14,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2021,2,8]],"date-time":"2021-02-08T00:00:00Z","timestamp":1612742400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2021,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Skraban\u2010Deardorff syndrome (a disease related to variations in the\n                    <jats:italic>WDR26<\/jats:italic>\n                    gene; OMIM #617616) was first described in a cohort of 15 individuals in 2017. The syndrome comprises intellectual deficiency, severe speech impairment, ataxic gait, seizures, mild hypotonia with feeding difficulties during infancy, and dysmorphic features. Here, we report on six novel heterozygous de novo pathogenic variants in\n                    <jats:italic>WDR26<\/jats:italic>\n                    in six probands. The patients' phenotypes were consistent with original publication. One patient displayed marked hypotonia with an abnormal muscle biopsy; this finding warrants further investigation. Gait must be closely monitored, in order to highlight any musculoskeletal or neurological abnormalities and prompt further examinations. Speech therapy and alternative communication methods should be initiated early in the clinical follow\u2010up, in order to improve language and oral eating and drinking.\n                  <\/jats:p>","DOI":"10.1111\/cge.13933","type":"journal-article","created":{"date-parts":[[2021,1,28]],"date-time":"2021-01-28T16:35:15Z","timestamp":1611851715000},"page":"732-739","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["<scp>Skraban\u2010Deardorff<\/scp>\n                    syndrome: Six new cases of\n                    <scp>\n                      <i>WDR<\/i>\n                      26\n                    <\/scp>\n                    \u2010related disease and expansion of the clinical phenotype"],"prefix":"10.1111","volume":"99","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0007-4195","authenticated-orcid":false,"given":"Auriane","family":"Cospain","sequence":"first","affiliation":[{"name":"CHU Rennes Service de G\u00e9n\u00e9tique Clinique, Centre de R\u00e9f\u00e9rence Maladies Rares CLAD\u2010Ouest, ERN ITHACA, H\u00f4pital Sud  Rennes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elise","family":"Schaefer","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale Institut de G\u00e9n\u00e9tique M\u00e9dicale d'Alsace, H\u00f4pitaux Universitaires de Strasbourg  Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Faoucher","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Mol\u00e9culaire et G\u00e9nomique CHU  Rennes France"},{"name":"Univ Rennes CNRS, IGDR, UMR 6290  Rennes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christ\u00e8le","family":"Dubourg","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Mol\u00e9culaire et G\u00e9nomique CHU  Rennes France"},{"name":"Univ Rennes CNRS, IGDR, UMR 6290  Rennes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wilfrid","family":"Carr\u00e9","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Mol\u00e9culaire et G\u00e9nomique CHU  Rennes France"},{"name":"Univ Rennes CNRS, IGDR, UMR 6290  Rennes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Varoona","family":"Bizaoui","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Centre Hospitalier Universitaire de Caen Normandie  Caen France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica","family":"Assoumani","sequence":"additional","affiliation":[{"name":"Centre de G\u00e9n\u00e9tique Humaine Universit\u00e9 de Franche\u2010Comt\u00e9  Besan\u00e7on France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lionel","family":"Van Maldergem","sequence":"additional","affiliation":[{"name":"Centre de G\u00e9n\u00e9tique Humaine Universit\u00e9 de Franche\u2010Comt\u00e9  Besan\u00e7on France"},{"name":"Clinical Investigation Center 1431 National Institute of Health and Medical Research (INSERM)  Besan\u00e7on France"},{"name":"Unit\u00e9 de recherche en neurosciences int\u00e9gratives et cognitives EA481 Universit\u00e9 de Franche\u2010Comt\u00e9  Besan\u00e7on France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Am\u00e9lie","family":"Piton","sequence":"additional","affiliation":[{"name":"Laboratoire de Diagnostic G\u00e9n\u00e9tique Institut de G\u00e9n\u00e9tique M\u00e9dicale d'Alsace, H\u00f4pitaux Universitaires de Strasbourg  Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B\u00e9n\u00e9dicte","family":"G\u00e9rard","sequence":"additional","affiliation":[{"name":"Laboratoire de Diagnostic G\u00e9n\u00e9tique Institut de G\u00e9n\u00e9tique M\u00e9dicale d'Alsace, H\u00f4pitaux Universitaires de Strasbourg  Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fr\u00e9d\u00e9ric","family":"Tran Mau\u2010Them","sequence":"additional","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence Anomalies du d\u00e9veloppement et syndromes malformatifs F\u00e9d\u00e9ration Hospitalo\u2010Universitaire M\u00e9decine Translationnelle et Anomalies du D\u00e9veloppement (TRANSLAD), CHU de Dijon Bourgogne  Dijon France"},{"name":"Inserm UMR1231 GAD, G\u00e9n\u00e9tique des Anomalies du D\u00e9veloppement Universit\u00e9 de Bourgogne  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0526-465X","authenticated-orcid":false,"given":"Ange\u2010Line","family":"Bruel","sequence":"additional","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence Anomalies du d\u00e9veloppement et syndromes malformatifs F\u00e9d\u00e9ration Hospitalo\u2010Universitaire M\u00e9decine Translationnelle et Anomalies du D\u00e9veloppement (TRANSLAD), CHU de Dijon Bourgogne  Dijon France"},{"name":"Inserm UMR1231 GAD, G\u00e9n\u00e9tique des Anomalies du D\u00e9veloppement Universit\u00e9 de Bourgogne  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurence","family":"Faivre","sequence":"additional","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence Anomalies du d\u00e9veloppement et syndromes malformatifs F\u00e9d\u00e9ration Hospitalo\u2010Universitaire M\u00e9decine Translationnelle et Anomalies du D\u00e9veloppement (TRANSLAD), CHU de Dijon Bourgogne  Dijon France"},{"name":"Inserm UMR1231 GAD, G\u00e9n\u00e9tique des Anomalies du D\u00e9veloppement Universit\u00e9 de Bourgogne  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florence","family":"Demurger","sequence":"additional","affiliation":[{"name":"Service de P\u00e9diatrie G\u00e9n\u00e9tique CH de Vannes  Vannes 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Maladies Rares CLAD\u2010Ouest, ERN ITHACA, H\u00f4pital Sud  Rennes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3727-9530","authenticated-orcid":false,"given":"Alino\u00eb","family":"Lavillaureix","sequence":"additional","affiliation":[{"name":"CHU Rennes Service de G\u00e9n\u00e9tique Clinique, Centre de R\u00e9f\u00e9rence Maladies Rares CLAD\u2010Ouest, ERN ITHACA, H\u00f4pital Sud  Rennes France"},{"name":"Univ Rennes CNRS, IGDR, UMR 6290  Rennes France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,2,8]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181484b49"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.06.002"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-020-02121-x"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2013.73"},{"key":"e_1_2_9_6_1","volume-title":"Psychoeducational Profile","author":"Schopler E","year":"1976"},{"key":"e_1_2_9_7_1","unstructured":"Josse: Brunet\u2010L\u00e9zine R\u00e9vis\u00e9: Echelle de d\u00e9veloppement psychomoteur de la premi\u00e8re enfance D Josse \u2010 1997 \u2010 \u00c9d. et applications psychologiques."},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcb.20175"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25241"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-019-01963-8"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-11-2953"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.chc.2017.03.001"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2008-1079123"},{"key":"e_1_2_9_14_1","first-page":"73","article-title":"Instruments for augmentative and alternative communication for children with autism spectrum disorder: a systematic review","volume":"497","author":"Ant\u00e3o L","year":"2018","journal-title":"Clin. Sao Paulo Braz"},{"key":"e_1_2_9_15_1","first-page":"77","article-title":"Auxologie, m\u00e9thode et s\u00e9quences","volume":"7","author":"Semp\u00e9 M","year":"1980","journal-title":"Bull M\u00e9m Soci\u00e9t\u00e9 Anthropol Paris"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13933","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.13933","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13933","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T10:07:38Z","timestamp":1693562858000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.13933"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,2,8]]},"references-count":14,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2021,5]]}},"alternative-id":["10.1111\/cge.13933"],"URL":"https:\/\/doi.org\/10.1111\/cge.13933","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.13933\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13933\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13933\/v2\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13933\/v2\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13933\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13933\/v2\/response1","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,2,8]]},"assertion":[{"value":"2020-11-25","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-01-23","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-02-08","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}