{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,11]],"date-time":"2026-02-11T16:20:50Z","timestamp":1770826850654,"version":"3.50.1"},"reference-count":16,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2016,9,19]],"date-time":"2016-09-19T00:00:00Z","timestamp":1474243200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"National Institute for Health Research (NIHR) Biomedical Research Centre based at Guy's and St Thomas' NHS Foundation Trust and King's College London"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,12]]},"abstract":"<jats:sec><jats:label\/><jats:p>Acrofacial dysostosis syndrome of Rodriguez is characterized by severe mandibular underdevelopment, upper limb phocomelia with absent fingers, absent fibulae, cleft palate, microtia, and abnormal pulmonary function. First reported in three siblings it was assumed to be an autosomal recessive condition. However, subsequent publication reported a further five simplex occurrences and a living patient with a heterozygous mutation in the <jats:italic>SF3B4<\/jats:italic> gene. Exome sequencing was performed on four fetuses with this disorder, including one of the originally described affected siblings. We identified two heterozygous frameshift mutations in the <jats:italic>SF3B4<\/jats:italic> gene in three of the four fetuses investigated. The observed mutation was apparently de novo in one fetus for whom parental DNA was available. Thus, Acrofacial dysostosis syndrome of Rodriguez is an autosomal dominant condition and the recurrences identified in the initial report were likely due to gonadal mosaicism. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37946","type":"journal-article","created":{"date-parts":[[2016,9,19]],"date-time":"2016-09-19T13:33:37Z","timestamp":1474292017000},"page":"3133-3137","source":"Crossref","is-referenced-by-count":16,"title":["Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the <i>SF3B4<\/i> gene"],"prefix":"10.1002","volume":"170","author":[{"given":"Melita D.","family":"Irving","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Guy's Hospital London United Kingdom"},{"name":"Division of Medical and Molecular Genetics King's College London London United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Boyan 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Hospital for Sickkids University of Toronto Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael A.","family":"Simpson","sequence":"additional","affiliation":[{"name":"Division of Medical and Molecular Genetics King's College London London United 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