{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T02:40:55Z","timestamp":1772160055442,"version":"3.50.1"},"reference-count":18,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2019,4,29]],"date-time":"2019-04-29T00:00:00Z","timestamp":1556496000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PI15\/01481"],"award-info":[{"award-number":["PI15\/01481"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2019,6]]},"abstract":"<jats:p>\n                    Overgrowth syndromes (OGS) comprise a heterogeneous group of disorders whose main characteristic is that either the weight, height, or head circumference are above the 97th centile or 2 to 3 SD above the mean for age and sex. Additional features, such as facial dysmorphism, developmental delay or intellectual disability (ID), congenital anomalies, neurological problems and an increased risk of neoplasia are usually associated with OGS. Genetic analysis in patients with overlapping clinical features is essential, to distinguish between two or more similar conditions, and to provide appropriate genetic counseling and recommendations for follow up. In the present paper, we report five new patients (from four unrelated families) with an X\u2010linked mental retardation syndrome with overgrowth (XMR93 syndrome), also known as XLID\u2010\n                    <jats:italic>BRWD3<\/jats:italic>\n                    \u2010related syndrome. The main features of these patients include ID, macrocephaly and dysmorphic facial features. XMR93 syndrome is a recently described disorder caused by mutations in the Bromodomain and WD\u2010repeat domain\u2010containing protein 3 (\n                    <jats:italic>BRWD3<\/jats:italic>\n                    ) gene. This article underscores the importance of genetic screening by exome sequencing for patients with OGS and ID with unclear clinical diagnosis, and expands the number of reported individuals with XMR93 syndrome, highlighting the clinical features of this unusual disease.\n                  <\/jats:p>","DOI":"10.1111\/cge.13504","type":"journal-article","created":{"date-parts":[[2019,1,10]],"date-time":"2019-01-10T01:16:04Z","timestamp":1547082964000},"page":"726-731","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["MRX93 syndrome (\n                    <i>BRWD3<\/i>\n                    gene): five new patients with novel mutations"],"prefix":"10.1111","volume":"95","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5308-2316","authenticated-orcid":false,"given":"Jair","family":"Tenorio","sequence":"first","affiliation":[{"name":"Institute of Medical and Molecular Genetics (INGEMM)\u2010IdiPAZ Hospital Universitario La Paz\u2010UAM Paseo de La Castellana  Madrid Spain"},{"name":"CIBERER CIBERER, Center for Networking Biomedical Research of Rare Diseases  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pablo","family":"Alarc\u00f3n","sequence":"additional","affiliation":[{"name":"Genetic Section Hospital Cl\u00ednico Universidad de Chile  Santiago Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pedro","family":"Arias","sequence":"additional","affiliation":[{"name":"Institute of Medical and Molecular Genetics (INGEMM)\u2010IdiPAZ Hospital Universitario La Paz\u2010UAM Paseo de La Castellana  Madrid Spain"},{"name":"CIBERER CIBERER, Center for Networking Biomedical Research of Rare Diseases  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Feliciano J.","family":"Ramos","sequence":"additional","affiliation":[{"name":"Clinical Genetics Unit, Service of Paediatrics University Hospital \u201cLozano Blesa\u201d, University of Zaragoza School of Medicine  Zaragoza Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jaume","family":"Campistol","sequence":"additional","affiliation":[{"name":"Neurology Unit Hospital Sant Joan de Deu \u2010 Passeig Sant Joan de D\u00e9u  Barcelona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Salvador","family":"Climent","sequence":"additional","affiliation":[{"name":"Pediatrics Unit Hospital General de Ontinyent  Valencia Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sixto","family":"Garc\u00eda\u2010Mi\u00f1aur","sequence":"additional","affiliation":[{"name":"Institute of Medical and Molecular Genetics (INGEMM)\u2010IdiPAZ Hospital Universitario La Paz\u2010UAM Paseo de La Castellana  Madrid Spain"},{"name":"CIBERER CIBERER, Center for Networking Biomedical Research of Rare Diseases  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irene","family":"Dap\u00eda","sequence":"additional","affiliation":[{"name":"Institute of Medical and Molecular Genetics (INGEMM)\u2010IdiPAZ Hospital Universitario La Paz\u2010UAM Paseo de La Castellana  Madrid Spain"},{"name":"CIBERER CIBERER, Center for Networking Biomedical Research of Rare Diseases  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alicia","family":"Hern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Institute of Medical and Molecular Genetics (INGEMM)\u2010IdiPAZ Hospital Universitario La Paz\u2010UAM Paseo de La Castellana  Madrid Spain"},{"name":"CIBERER CIBERER, Center for Networking Biomedical Research of Rare Diseases  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juli\u00e1n","family":"Nevado","sequence":"additional","affiliation":[{"name":"Institute of Medical and Molecular Genetics (INGEMM)\u2010IdiPAZ Hospital Universitario La Paz\u2010UAM Paseo de La Castellana  Madrid Spain"},{"name":"CIBERER CIBERER, Center for Networking Biomedical Research of Rare Diseases  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mario","family":"Sol\u00eds","sequence":"additional","affiliation":[{"name":"Institute of Medical and Molecular Genetics (INGEMM)\u2010IdiPAZ Hospital Universitario La Paz\u2010UAM Paseo de La Castellana  Madrid Spain"},{"name":"CIBERER CIBERER, Center for Networking Biomedical Research of Rare Diseases  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V\u00edctor L.","family":"Ruiz\u2010P\u00e9rez","sequence":"additional","affiliation":[{"name":"CIBERER CIBERER, Center for Networking Biomedical Research of Rare Diseases  Madrid Spain"},{"name":"Instituto de Investigaciones Biomedicas de Madrid (CSIC\u2010UAM) Arturo Duperier  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"The Sogri 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