{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T02:41:05Z","timestamp":1772160065491,"version":"3.50.1"},"reference-count":13,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2021,1,5]],"date-time":"2021-01-05T00:00:00Z","timestamp":1609804800000},"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":[[2021,3]]},"abstract":"Abstract<\/jats:title>\n \n Pathogenic variants in the\n RBM10<\/jats:italic>\n gene cause a rare X\u2010linked disorder described as TARP (Talipes equinovarus, Atrial septal defect, Robin sequence, and Persistent left vena cava superior) syndrome. We report two novel patients with truncating\n RBM10<\/jats:italic>\n variants in view of the literature, presenting a total of 26 patients from 15 unrelated families. Our results illustrate the highly pleiotropic nature of\n RBM10<\/jats:italic>\n pathogenic variants, beyond the classic TARP syndrome features. Major clinical characteristics include severe developmental delay, failure to thrive, brain malformations, neurological symptoms, respiratory issues, and facial dysmorphism. Minor features are growth retardation, cardiac, gastrointestinal, limb, and skeletal abnormalities. Additional recurrent features include genital and renal abnormalities as well as hearing and visual impairment. Thus,\n RBM10<\/jats:italic>\n loss of function variants typically cause an intellectual disability and congenital malformation syndrome that requires assessment of multiple organ systems at diagnosis and for which provided clinical features might simplify diagnostic assessment. Furthermore, evidence for an RBM10\u2010related genotype\u2013phenotype correlation is emerging, which can be important for prognosis.\n <\/jats:p>","DOI":"10.1111\/cge.13901","type":"journal-article","created":{"date-parts":[[2020,12,19]],"date-time":"2020-12-19T06:41:14Z","timestamp":1608360074000},"page":"449-456","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Phenotypic spectrum of the\n RBM10<\/scp>\n \u2010mediated intellectual disability and congenital malformation syndrome beyond classic\n TARP<\/scp>\n syndrome features"],"prefix":"10.1111","volume":"99","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0574-5138","authenticated-orcid":false,"given":"Candy","family":"Kumps","sequence":"first","affiliation":[{"name":"Center for Medical Genetics Ghent University Hospital Ghent Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erika","family":"D'haenens","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Ghent University Hospital Ghent Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0816-6262","authenticated-orcid":false,"given":"Sarah","family":"Vergult","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Ghent University Hospital Ghent Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jasmine","family":"Leus","sequence":"additional","affiliation":[{"name":"Department of Pediatrics AZ Maria Middelares Ghent Ghent Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rudy","family":"van Coster","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Neurology and Metabolism Ghent University Hospital Ghent Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Jansen","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Unit, Department of Pediatrics UZ Brussel Jette Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Koen","family":"Devriendt","sequence":"additional","affiliation":[{"name":"Center for Human Genetics Katholieke Universiteit Leuven Leuven Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Oostra","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Neurology and Metabolism Ghent University Hospital Ghent Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olivier M.","family":"Vanakker","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Ghent University Hospital Ghent Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,1,5]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1970.02100050178020"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10201"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.04.007"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34190"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/emmm.201302663"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36212"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-017-0426-3"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.40638"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.40645"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2018.09.001"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13835"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/joa3.12078"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1080\/15476286.2016.1247148"}],"container-title":["Clinical 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