{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T17:59:49Z","timestamp":1792173589406,"version":"4.4.0"},"reference-count":31,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2020,2,23]],"date-time":"2020-02-23T00:00:00Z","timestamp":1582416000000},"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":[[2020,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    <jats:italic>MECP2<\/jats:italic>\n                    duplication syndrome (MDS) is an X\u2010linked neurodevelopmental disorder characterized by a severe to profound intellectual disability, early onset hypotonia and diverse psycho\u2010motor and behavioural features. To date, fewer than 200 cases have been published. We report the clinical and molecular characterization of a Spanish MDS cohort that included 19 boys and 2 girls. Clinical suspicions were confirmed by array comparative genomic hybridization and multiplex ligation\u2010dependent probe amplification (MLPA). Using, a custom in\u2010house MLPA assay, we performed a thorough study of the minimal duplicated region, from which we concluded a complete duplication of both\n                    <jats:italic>MECP2<\/jats:italic>\n                    and\n                    <jats:italic>IRAK1<\/jats:italic>\n                    was necessary for a correct MDS diagnosis, as patients with partial\n                    <jats:italic>MECP2<\/jats:italic>\n                    duplications lacked some typical clinical traits present in other MDS patients. In addition, the duplication location may be related to phenotypic severity. This observation may provide a new approach for genotype\u2010phenotype correlations, and thus more personalized genetic counselling.\n                  <\/jats:p>","DOI":"10.1111\/cge.13718","type":"journal-article","created":{"date-parts":[[2020,2,11]],"date-time":"2020-02-11T07:21:09Z","timestamp":1581405669000},"page":"610-620","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":26,"title":["Molecular characterization of Spanish patients with\n                    <i>MECP2<\/i>\n                    duplication syndrome"],"prefix":"10.1111","volume":"97","author":[{"given":"Ainhoa","family":"Pascual\u2010Alonso","sequence":"first","affiliation":[{"name":"Fundaci\u00f3n San Juan de Dios Servicio de Medicina Gen\u00e9tica y Molecular  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Blasco","sequence":"additional","affiliation":[{"name":"Fundaci\u00f3n San Juan de Dios Servicio de 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